Links to diseases

MAPLE SYRUP URINE DISEASE Last update 06.01.2016_12:04:49
MAPLE SYRUP URINE DISEASE
  1. 2-Oxo-3-methylvaleric acid
  2. 2-Oxoisocaproic acid
  3. 2-Hydroxyisovaleric acid
  4. 2-Hydroxy-3-methylvaleric acid
  5. allo-Isoleucine
  6. 2-Hydroxyisocaproic acid
  7. 2-Oxoisovaleric acid
  8. Isoleucine
  9. Glucose
  10. pH
  11. Ketone bodies
  12. Leucine
  13. Valine
  14. BCKAD complex
  15. 3-Hydroxybutyric acid
  16. early death
  17. coma
  18. seizures
  19. lethargy, drowsiness, malaise or sleep disorder
  20. feeding difficulties, poor feeding
  21. vomiting
  22. onset, newborn
  23. maple sirup or caramel odor
  24. shrill cry
  25. pancreatitis
  26. ataxia
  27. encephalopathy
  28. ophthalmoplegia
  29. mental retardation
  30. metabolic acidosis
  31. MRI, brain, white matter abnormalities -
  32. EEG abnormalities -
  33. hypoglycemia
  34. ketosis
  35. Ferric chloride reaction
  36. behavior, autism or autistic-like
  37. hypotonia
  38. cerebral edema

WOLMAN DISEASE Last update
WOLMAN DISEASE
  1. Cholesteryl esters
  2. Triglycerides
  3. Hemoglobine
  4. Acid lipase
  5. vomiting
  6. abdominal fullness
  7. adrenal calcification
  8. mental retardation
  9. large liver
  10. large spleen
  11. malabsorption
  12. steatorrhea
  13. onset, infant
  14. failure to thrive
  15. diarrhea
  16. pain, abdominal
  17. early death
  18. liver failure
  19. anemia
  20. Foam cells, bone marrow
  21. Lymphocytes, vacuoles
  22. Transaminases
  23. ascites

2-KETOGLUTARATE DEHYDROGENASE COMPLEX DEFICIENCY Last update 02.12.2015_16:48:06
2-KETOGLUTARATE DEHYDROGENASE COMPLEX DEFICIENCY
  1. Citrate
  2. Organic acids, urine
  3. progressive neurologic defect
  4. behavior, abnormal or bizarre, confusion
  5. encephalopathy
  6. 2-Oxoglutaric acid
  7. Fumaric acid
  8. tremor or twitching
  9. Succinate
  10. Malic acid
  11. Glucose
  12. cerebellar atrophy or hypoplasia
  13. motor retardation
  14. hypotonia
  15. ataxia
  16. opisthotonus
  17. seizures
  18. onset, child
  19. onset, infant
  20. chorea or athetosis
  21. sudden death
  22. cardiomyopathy
  23. liver involvement (acute, chronic, hepatitis)
  24. hypoglycemia
  25. lactic acidosis
  26. Lactate
  27. metabolic acidosis

3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY Last update 12.12.2015_20:53:28
3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY
  1. pH
  2. 3-Hydroxy-3-methylglutaric acid
  3. 3-Methylglutaconic acid
  4. 3-Methylglutaric acid
  5. 3-Hydroxyisovaleric acid
  6. 3-Methylcrotonylglycine
  7. Ammonia
  8. Glucose
  9. Lactate
  10. Transaminases
  11. Adipic acid
  12. Carnitine
  13. 3-Hydroxy-3-methylglutaryl-CoA lyase
  14. early death
  15. dehydration
  16. tachypnea, hyperpnea, dyspnea, respiratory distress
  17. hypotonia
  18. coma
  19. onset, newborn
  20. cardiomyopathy
  21. pancreatitis
  22. onset, infant
  23. hemiparesis/hemiparetic cerebral palsy
  24. seizures
  25. macrocephaly (large calvaria, >2 SD for age)
  26. cerebral atrophy
  27. vomiting
  28. large liver
  29. lethargy, drowsiness, malaise or sleep disorder
  30. neutropenia (decreased neutrophils)
  31. metabolic acidosis
  32. Organic acids, urine
  33. Acylcarnitin, urine
  34. hypoglycemia
  35. hyperammonemia
  36. lactic acidosis
  37. anemia
  38. Methylglutarylcarnitine (C6DC)
  39. MRI, brain, abnormalities -
  40. leukoencephalopathy
  41. onset, adult

BETA-KETOTHIOLASE DEFICIENCY Last update 21.01.2016_21:49:02
BETA-KETOTHIOLASE DEFICIENCY
  1. pCO2
  2. Tiglylglycine
  3. 2-Methyl-3-hydroxybutyric acid
  4. 2-Methylacetoacetic acid
  5. Butanon
  6. Ammonia
  7. Glucose
  8. 6-Methyluracil
  9. 3-Hydroxybutyric acid
  10. no clinical signs or symptoms
  11. tachypnea, hyperpnea, dyspnea, respiratory distress
  12. hypotonia
  13. coma
  14. headache (severe, recurrent or occipital, migraine)
  15. seizures
  16. irritability
  17. lethargy, drowsiness, malaise or sleep disorder
  18. feeding difficulties, poor feeding
  19. vomiting
  20. diarrhea
  21. onset, infant
  22. onset, child
  23. Acylcarnitin, urine
  24. dystonia
  25. MRI, brain, abnormalities -
  26. Ketone bodies
  27. metabolic acidosis
  28. Glycine
  29. Organic acids, urine
  30. Amino acids, plasma
  31. hypoglycemia
  32. hyperammonemia
  33. ketosis
  34. Tiglyl/3-Methylcrotonylcarnitine (C5:1)
  35. 3-Hydroxyisovalerylcarnitine (C5-OH)
  36. failure to thrive
  37. onset, newborn
  38. 3-Hydroxyisovaleric acid
  39. 3-Hydroxypropionic acid
  40. 3-Methylcrotonylglycine

CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ie Last update 18.12.2015_20:32:50
CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ie
  1. mental retardation
  2. seizures
  3. dysmorphism
  4. motor retardation
  5. microcephaly
  6. liver involvement (acute, chronic, hepatitis)
  7. onset, newborn
  8. hydrops fetalis
  9. hypotonia
  10. blindness, visual loss, visual impairment
  11. strabismus
  12. Antithrombin III (AT III)
  13. speech development, delayed, abnormal
  14. encephalopathy
  15. optic atrophy
  16. ataxia

SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY Last update 12.08.2009_19:47:55
SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
  1. 4-Hydroxybutyric acid
  2. 3,4-Dihydroxybutyric acid
  3. Succinic semialdehyde
  4. gamma-Aminobutyric acid
  5. Succinic semialdehyde dehydrogenase
  6. Glycine
  7. speech development, delayed, abnormal
  8. hypotonia
  9. mental retardation
  10. motor retardation
  11. ataxia
  12. seizures
  13. chorea or athetosis
  14. hyporeflexia
  15. myopathy, ragged red fibers
  16. coma
  17. microcephaly
  18. macrocephaly (large calvaria, >2 SD for age)
  19. behavior, abnormal or bizarre, confusion
  20. hyperreflexia
  21. MRI, brain, abnormalities -
  22. Organic acid, spinal fluid
  23. Amino acid, spinal fluid
  24. Organic acids, urine
  25. Amino acids, urine
  26. Amino acids, plasma
  27. behavior, autism or autistic-like
  28. 2,4-Dihydroxybutyric acid
  29. lethargy, drowsiness, malaise or sleep disorder
  30. behavior, hyperactive, restless

GLUTARIC ACIDURIA I Last update
GLUTARIC ACIDURIA I
  1. 3-Hydroxyglutaric acid
  2. Glutaconic acid
  3. Glutaric acid
  4. Carnitine
  5. Ketone bodies
  6. 3-Hydroxybutyric acid
  7. macrocephaly (large calvaria, >2 SD for age)
  8. progressive neurologic defect
  9. chorea or athetosis
  10. onset, child
  11. encephalopathy
  12. vomiting
  13. large liver
  14. grimacing
  15. dystonia
  16. dyskinesia
  17. hypotonia
  18. seizures
  19. opisthotonus
  20. bleeding tendencies, hemorrhages
  21. irritability
  22. hygroma
  23. extrapyramidal signs
  24. onset, infant
  25. fever
  26. motor retardation
  27. CT, brain, abnormalities -
  28. metabolic acidosis
  29. Glutaryl CoA dehydrogenase
  30. MRI, brain, abnormalities -
  31. Acylcarnitin, urine
  32. Organic acids, urine
  33. ketosis
  34. nephrotic syndrome, congenital
  35. Glutarylcarnitine (C5DC)
  36. learning disability
  37. onset, adolescent
  38. subdural haematoma

GLUTARIC ACIDURIA II Last update
GLUTARIC ACIDURIA II
  1. Isovalerylglycine
  2. Ammonia
  3. 3-Hydroxyisovaleric acid
  4. 2-Hydroxyglutaric acid (L)
  5. 4-Hydroxybutyric acid
  6. Ethylmalonic acid
  7. Glucose
  8. Glutaric acid
  9. pH
  10. Isobutyrylglycine
  11. 2-Methylbutyrylglycine
  12. 5-Hydroxyhexanoic acid
  13. Adipic acid
  14. Suberic acid
  15. Sebacic acid
  16. Proline
  17. Hydroxyproline
  18. birthweight low (small for gestational age)
  19. sweaty feet odor
  20. hypotonia
  21. coma
  22. hypothermia
  23. onset, newborn
  24. cardiomyopathy
  25. renal cysts
  26. liver, fatty
  27. dysmorphism
  28. low set ears
  29. hypospadia
  30. early death
  31. MRS, brain, abnormalities -
  32. MRI, brain, abnormalities -
  33. Amino acids, plasma
  34. Amino acids, urine
  35. metabolic acidosis
  36. Organic acids, urine
  37. hypoglycemia
  38. hyperammonemia
  39. Acylcarnitin, urine
  40. pericardial effusion
  41. pancreatitis
  42. onset, adolescent
  43. myopathy
  44. polyhydramnion (maternal)
  45. Butyryl/Isobutyrylcarnitine (C4)
  46. Decanoylcarnitine (C10)
  47. Dodecanoylcarnitine (C12)
  48. Tetradecanoylcarnitine (C14)
  49. Palmitoylcarnitine (C16)
  50. Lactate
  51. Isovaleric acid
  52. Lysine
  53. Sarcosine
  54. 2-Methylbutyric Acid
  55. Isobutyric acid

ISOVALERIC ACIDEMIA Last update 17.01.2016_10:12:39
ISOVALERIC ACIDEMIA
  1. Creatinine
  2. 4-Hydroxyisovaleric acid
  3. 3-Hydroxyisovaleric acid
  4. Ammonia
  5. Glucose
  6. Isovalerylglycine
  7. pCO2
  8. pH
  9. 3-Hydroxybutyric acid
  10. Ketone bodies
  11. shortened gestation time
  12. sweaty feet odor
  13. tachypnea, hyperpnea, dyspnea, respiratory distress
  14. mental retardation
  15. coma
  16. vomiting
  17. onset, newborn
  18. onset, infant
  19. encephalopathy
  20. pancreatitis
  21. thrombopenia, thrombocytopenia
  22. neutropenia (decreased neutrophils)
  23. metabolic acidosis
  24. Organic acids, urine
  25. Carnitine
  26. Glycine
  27. Acylcarnitin, urine
  28. hypoglycemia
  29. hyperammonemia
  30. ketosis
  31. respiratory distress
  32. Isovaleryl/2-Methylbutyrylcarnitine (C5)
  33. MRI, brain, abnormalities -
  34. Isovalerylasparagine
  35. Isovalerylhistidine
  36. Isovaleryllysine
  37. Isovaleryltryptophan
  38. N-Acetyltryptophane
  39. Methylsuccinic acid
  40. Methylmalonic acid
  41. Methylfumaric acid
  42. 2-Methyl-cis-aconitic acid
  43. Isovaleric acid

HYPERTRIGLYCERIDEMIA Last update
HYPERTRIGLYCERIDEMIA
  1. Triglycerides
  2. onset, child
  3. increased weight for age, height and sex (>2 SD)
  4. coronary heart disease
  5. Very low density lipoproteins (VLDL)
  6. xanthoma

CYTOCHROME-C-OXIDASE DEFICIENCY Last update
CYTOCHROME-C-OXIDASE DEFICIENCY
  1. Ketone bodies
  2. Lactate
  3. pH
  4. early death
  5. hearing defect, deafness
  6. ptosis (drooping eyelid)
  7. myopathy
  8. muscle weakness
  9. cardiomegaly
  10. neurological deterioration
  11. mental retardation
  12. motor retardation
  13. seizures
  14. tubulopathy
  15. onset, newborn
  16. encephalopathy
  17. poor crying
  18. feeding difficulties, poor feeding
  19. swallowing difficulties
  20. respiratory insufficiency
  21. renal failure, acute/chronic
  22. Fanconi syndrome
  23. ketosis
  24. lactic acidosis
  25. cardiomyopathy
  26. limb abnormalities, limb deformities
  27. liver involvement (acute, chronic, hepatitis)

MENKES SYNDROME Last update 10.10.2008_21:48:13
MENKES SYNDROME
  1. Copper
  2. Ceruloplasmin
  3. male
  4. hair, abnormal (thin, brittle)
  5. seizures
  6. mental retardation
  7. motor retardation
  8. pili torti
  9. facies, cherubic (dolls face)
  10. progressive neurologic defect
  11. gingiva, hyperplastic
  12. normal at birth
  13. thromboembolism
  14. hypothermia
  15. skeletal changes
  16. osteoporosis
  17. retinal or macular degeneration
  18. hair loss
  19. bladder divertikulae
  20. EEG abnormalities -
  21. Homovanillic acid/vanillylmandelic acid (HVA/VMA) ratio
  22. hernia
  23. birthweight low (small for gestational age)
  24. subdural haematoma

BETA-MANNOSIDOSIS Last update 03.02.2016_18:06:36
BETA-MANNOSIDOSIS
  1. beta-Mannosidase
  2. Dolichol
  3. Oligosaccharides
  4. dysmorphism
  5. normal at birth
  6. mental retardation
  7. seizures
  8. angiokeratoma
  9. hearing defect, deafness
  10. infections (severe or recurrent)
  11. cerebral atrophy
  12. speech development, delayed, abnormal
  13. behavior, hyperactive, restless
  14. feeding difficulties
  15. achalasia
  16. hypotonia
  17. ataxia
  18. short stature
  19. hypertonia, spasticity
  20. hydrocephalus

METHYLMALONIC ACIDURIA (MMA) Last update 11.12.2015_22:18:17
METHYLMALONIC ACIDURIA (MMA)
  1. Methylmalonic acid
  2. Methylcitric acid
  3. 3-Hydroxypropionic acid
  4. Propionylglycine
  5. 3-Hydroxyvaleric acid
  6. Glycine
  7. Ammonia
  8. Creatinine
  9. pCO2
  10. pH
  11. Methylmalonyl CoA mutase
  12. Uric acid
  13. dehydration
  14. tachypnea, hyperpnea, dyspnea, respiratory distress
  15. growth retardation
  16. mental retardation
  17. coma
  18. seizures
  19. behavior, hyperactive, restless
  20. spastic diplegia/quadriplegia
  21. feeding difficulties, poor feeding
  22. vomiting
  23. diarrhea
  24. nephrosis
  25. decreased body hair
  26. hypothermia
  27. failure to thrive
  28. onset, newborn
  29. onset, child
  30. cardiomyopathy
  31. Acylcarnitin, urine
  32. pancreatitis
  33. hypotonia
  34. onset, infant
  35. thrombopenia, thrombocytopenia
  36. neutropenia (decreased neutrophils)
  37. metabolic acidosis
  38. Ketone bodies
  39. Organic acids, urine
  40. Amino acids, urine
  41. Carnitine
  42. anemia
  43. MRI, brain, gray matter abnormalities -
  44. ketosis
  45. hyperammonemia
  46. respiratory distress
  47. 5-Oxoproline
  48. Propionylcarnitine (C3)
  49. Methylmalonylcarnitine (C4DC)
  50. Gaucher cells, bone marrow, spleen
  51. Biopterin
  52. Inosine
  53. Transferrin
  54. Tyrosine
  55. Cortisol/cortisone ratio
  56. 3-Aminoisobutyric acid
  57. Heptadecanoylcarnitine (C17)

MEVALONIC ACIDURIA Last update
MEVALONIC ACIDURIA
  1. Mevalonolactone
  2. Mevalonic acid
  3. Mevalonate kinase
  4. Hemoglobine
  5. Creatinine kinase
  6. Cholesterol
  7. fever
  8. cataract
  9. myopathy
  10. large spleen
  11. hypotonia
  12. mental retardation
  13. ataxia
  14. skin rushes
  15. diarrhea
  16. vomiting
  17. cerebellar atrophy or hypoplasia
  18. large liver
  19. early death
  20. arthralgia
  21. edema
  22. dysmorphism
  23. failure to thrive
  24. Organic acids, urine
  25. Organic acids, plasma
  26. infections (severe or recurrent)
  27. seizures
  28. bone age
  29. microcephaly
  30. short stature
  31. pigmentation, skin and sclera
  32. retinitis pigmentosa

OROTIC ACIDURIA, HEREDITARY Last update
OROTIC ACIDURIA, HEREDITARY
  1. Orotic acid
  2. Hemoglobine
  3. growth retardation
  4. mental retardation
  5. failure to thrive
  6. hypotonia
  7. urolithiasis
  8. congenital heart defect
  9. strabismus
  10. stomatitis
  11. anemia
  12. Organic acids, urine
  13. neutropenia (decreased neutrophils)
  14. hematuria

PROPIONIC ACIDEMIA Last update 11.12.2015_22:00:32
PROPIONIC ACIDEMIA
  1. Glutamine
  2. Carnitine
  3. Propionic acid
  4. Ammonia
  5. 3-Hydroxyvaleric acid
  6. Methylcitric acid
  7. pCO2
  8. pH
  9. Propionylglycine
  10. 3-Hydroxypropionic acid
  11. Glycine
  12. Propionyl CoA carboxylase
  13. Human growth hormone (hGH)
  14. Ketone bodies
  15. Tiglylglycine
  16. dehydration
  17. tachypnea, hyperpnea, dyspnea, respiratory distress
  18. growth retardation
  19. mental retardation
  20. coma
  21. seizures
  22. lethargy, drowsiness, malaise or sleep disorder
  23. behavior, hyperactive, restless
  24. spastic diplegia/quadriplegia
  25. feeding difficulties, poor feeding
  26. vomiting
  27. decreased body hair
  28. hypothermia
  29. failure to thrive
  30. onset, newborn
  31. Acylcarnitin, urine
  32. pancreatitis
  33. cardiomyopathy
  34. cardiomegaly
  35. pyloric stenosis
  36. strokelike episodes
  37. recurrent or intermittent skin defect
  38. thrombopenia, thrombocytopenia
  39. neutropenia (decreased neutrophils)
  40. Glucose
  41. metabolic acidosis
  42. Organic acids, plasma
  43. Organic acids, urine
  44. Amino acids, urine
  45. Amino acids, plasma
  46. Human growth hormone (hGH)
  47. MRI, brain, gray matter abnormalities -
  48. hypoglycemia
  49. hyperammonemia
  50. ketosis
  51. respiratory distress
  52. hearing defect, deafness
  53. 5-Oxoproline
  54. Propionylcarnitine (C3)
  55. optic atrophy
  56. onset, child
  57. cardiac arrhythmia, dysrhythmia
  58. glaucoma
  59. 3-Hydroxybutyrate + Acetoacetate
  60. Acetoacetic acid
  61. Acetone
  62. Heptadecanoylcarnitine (C17)

GLUTATHIONE SYNTHETASE DEFICIENCY Last update 08.07.2013_13:26:48
GLUTATHIONE SYNTHETASE DEFICIENCY
  1. 5-Oxoproline
  2. Glutathione
  3. Proline
  4. Ammonia
  5. pH
  6. Glutathione synthetase
  7. jaundice
  8. mental retardation
  9. motor retardation
  10. ataxia
  11. seizures
  12. tremor or twitching
  13. cerebellar atrophy or hypoplasia
  14. spastic diplegia/quadriplegia
  15. vomiting
  16. thromboembolism
  17. onset, newborn
  18. onset, infant
  19. onset, child
  20. metabolic acidosis
  21. anemia
  22. Organic acids, urine
  23. Amino acids, plasma
  24. hyperammonemia
  25. Cysteinyl leukotrienes (LTC4, LTD4, LTE4)
  26. Cystinylglycine

TRIHYDROXYCOPROSTANIC ACIDEMIA Last update
TRIHYDROXYCOPROSTANIC ACIDEMIA
  1. Trihydroxycoprostanic acid
  2. early death
  3. ascites
  4. growth retardation
  5. cirrhosis or fibrosis of liver
  6. cholestasis
  7. Bilirubin
  8. Cholesterol
  9. jaundice
  10. onset, newborn

ALPHA-MANNOSIDOSIS Last update 24.01.2016_15:37:47
ALPHA-MANNOSIDOSIS
  1. alpha-Mannosidase
  2. Oligosaccharides
  3. macrocephaly (large calvaria, >2 SD for age)
  4. motor retardation
  5. hearing defect, deafness
  6. large liver
  7. large spleen
  8. infections (severe or recurrent)
  9. mental retardation
  10. coarse facial features
  11. early death
  12. dysostosis multiplex
  13. skeletal changes
  14. umbilical hernia
  15. corneal deposits
  16. cerebellar atrophy or hypoplasia
  17. onset, infant
  18. corneal clouding
  19. dysmorphism
  20. onset, child
  21. cataract
  22. MRI, brain, abnormalities -
  23. pancytopenia
  24. Lymphocytes, vacuoles
  25. hyperphagia
  26. hernia
  27. speech development, delayed, abnormal

VITAMIN B(12) MALABSORPTION. ANEMIA, PERNICOUS, JUVENILE. COBALAMIN MALABSORPTION Last update
VITAMIN B(12) MALABSORPTION. ANEMIA, PERNICOUS, JUVENILE. COBALAMIN MALABSORPTION
  1. Vitamin B12
  2. Homocystine
  3. Methylmalonic acid
  4. mental retardation
  5. onset, child
  6. Protein
  7. anemia
  8. Organic acids, urine

3-METHYLGLUTACONIC ACIDURIA (TYPE I) Last update 03.01.2016_17:48:29
3-METHYLGLUTACONIC ACIDURIA (TYPE I)
  1. 3-Hydroxyisovaleric acid
  2. 3-Methylglutaric acid
  3. 3-Methylglutaconic acid
  4. 3-Methylglutaconyl-CoA hydratase
  5. Glucose
  6. Lactate
  7. pH
  8. Chloride
  9. respiratory distress
  10. speech development, delayed, abnormal
  11. motor retardation
  12. cerebellar atrophy or hypoplasia
  13. birthweight low (small for gestational age)
  14. coma
  15. Organic acids, urine
  16. metabolic acidosis
  17. hypoglycemia
  18. onset, infant
  19. onset, child
  20. mental retardation
  21. MRI, brain, abnormalities -
  22. chorea or athetosis
  23. paraparesis/paraplegia
  24. optic atrophy
  25. seizures
  26. ataxia
  27. onset, adult
  28. leukoencephalopathy
  29. MRI, brain, white matter abnormalities -
  30. failure to thrive
  31. dystonia
  32. athetosis
  33. hyperreflexia
  34. Ammonia
  35. Creatinine kinase

3-METHYLGLUTACONIC ACIDURIA (TYPE II), X-LINKED Last update 03.01.2016_18:29:08
3-METHYLGLUTACONIC ACIDURIA (TYPE II), X-LINKED
  1. 3-Methylglutaconic acid
  2. 3-Methylglutaric acid
  3. Succinate
  4. 2-Ethylhydracrilic acid
  5. Lactate
  6. pH
  7. Pyruvate, Pyruvic acid
  8. Cholesterol
  9. early death
  10. optic atrophy
  11. hearing defect, deafness
  12. hypertonia, spasticity
  13. hypotonia
  14. growth retardation
  15. seizures
  16. chorea or athetosis
  17. failure to thrive
  18. onset, newborn
  19. onset, infant
  20. onset, child
  21. cardiomyopathy
  22. infections (severe or recurrent)
  23. cardiomegaly
  24. myopathy
  25. CT, brain, abnormalities -
  26. EEG abnormalities -
  27. Carnitine
  28. Organic acids, urine
  29. neutropenia (decreased neutrophils)
  30. lactic acidosis
  31. feeding difficulties, poor feeding
  32. hypothermia
  33. onset, adolescent
  34. dysmorphism
  35. onset, adult
  36. infections (local, abscesses)
  37. cardiac arrhythmia, dysrhythmia
  38. Cardiolipin profile
  39. Ammonia
  40. Uric acid

ARGININOSUCCINIC ACIDURIA (ASL) Last update 24.01.2016_18:15:02
ARGININOSUCCINIC ACIDURIA (ASL)
  1. Glutamine
  2. Ammonia
  3. Lysine
  4. Argininosuccinate
  5. Citrulline
  6. Uracil
  7. Arginine
  8. Glycine
  9. Orotic acid
  10. Argininosuccinase
  11. shortened gestation time
  12. growth retardation
  13. mental retardation
  14. coma
  15. seizures
  16. lethargy, drowsiness, malaise or sleep disorder
  17. behavior, hyperactive, restless
  18. spastic diplegia/quadriplegia
  19. vomiting
  20. diarrhea
  21. failure to thrive
  22. onset, newborn
  23. preeclampsia, maternal
  24. trichorrhexis nodosa
  25. pili torti
  26. Amino acids, urine
  27. Organic acids, urine
  28. Amino acids, plasma
  29. hyperammonemia
  30. Uric acid
  31. Orotidine
  32. large liver
  33. liver involvement (acute, chronic, hepatitis)
  34. ataxia

BETA-MERCAPTOLACTATE-CYSTEINE DISULFIDURIA Last update 31.01.2016_18:14:12
BETA-MERCAPTOLACTATE-CYSTEINE DISULFIDURIA
  1. beta-Mercaptolactate cysteine disulfide
  2. mental retardation
  3. cataract
  4. nystagmus
  5. increased weight for age, height and sex (>2 SD)
  6. anemia
  7. seizures
  8. mercaptolactate
  9. mercaptoacetate

3-METHYL-CROTONYL-GLYCINURIA Last update 12.12.2015_21:16:51
3-METHYL-CROTONYL-GLYCINURIA
  1. Ammonia
  2. 3-Hydroxyisovaleric acid
  3. 3-Methylcrotonylglycine
  4. Glucose
  5. pH
  6. Carnitine
  7. 3-Methylcrotonyl-CoA carboxylase
  8. 2-Oxoglutaric acid
  9. Transaminases
  10. Ketone bodies
  11. hypotonia
  12. motor retardation
  13. lethargy, drowsiness, malaise or sleep disorder
  14. tomcats urine odor
  15. onset, child
  16. feeding difficulties, poor feeding
  17. vomiting
  18. seizures
  19. hair loss
  20. metabolic acidosis
  21. Organic acids, urine
  22. hypoglycemia
  23. hyperammonemia
  24. ketosis
  25. onset, infant
  26. 3-Hydroxyisovalerylcarnitine (C5-OH)
  27. failure to thrive
  28. MRI, brain, white matter abnormalities -
  29. strokelike episodes
  30. early death
  31. no clinical signs or symptoms

MALONYL-COA DECARBOXYLASE DEFICIENCY Last update 05.07.2013_13:55:15
MALONYL-COA DECARBOXYLASE DEFICIENCY
  1. Malonic acid
  2. Acylcarnitine/carnitine ratio
  3. Malonyl-CoA decarboxylase
  4. Ethylmalonic acid
  5. Glucose
  6. Methylmalonic acid
  7. pCO2
  8. pH
  9. decreased muscle volume, atrophy or hypoplasia
  10. mental retardation
  11. seizures
  12. vomiting
  13. onset, infant
  14. cardiomyopathy
  15. Organic acids, urine
  16. hypoglycemia
  17. short stature
  18. pain, abdominal
  19. constipation
  20. metabolic acidosis
  21. Adipic acid
  22. Succinate
  23. Suberic acid

DICARBOXYLIC AMINOACIDURIA. GLUTAMATE-ASPARTATE TRANSPORT DEFECT Last update
DICARBOXYLIC AMINOACIDURIA. GLUTAMATE-ASPARTATE TRANSPORT DEFECT
  1. Glucose
  2. Ketone bodies
  3. Proline
  4. Aspartic acid
  5. Glutamic acid, Glutamate
  6. no clinical signs or symptoms
  7. Amino acids, urine
  8. hypoglycemia
  9. ketosis

METACHROMATIC LEUKODISTROPHIES Last update
METACHROMATIC LEUKODISTROPHIES
  1. Arylsulfatase A
  2. Protein, total, spinal fluid
  3. Lactosylceramide 3-sulfate
  4. Galactosylceramide 3-sulfate
  5. Fanconi syndrome
  6. motor retardation
  7. ataxia
  8. nystagmus
  9. hyperreflexia
  10. hyporeflexia
  11. hypotonia
  12. onset, child
  13. onset, adult
  14. progressive neurologic defect
  15. defect of walking, running, rising or climbing
  16. mental retardation
  17. peripheral neuropathy
  18. gallbladder abnormalities
  19. dysarthria
  20. behavior, abnormal or bizarre, confusion
  21. Sulfatide, urine
  22. EEG abnormalities -
  23. MRI, brain, white matter abnormalities -
  24. conjunctival biopsy, abnormal
  25. seizures

FUMARASE DEFICIENCY Last update 06.07.2013_17:28:44
FUMARASE DEFICIENCY
  1. Fumaric acid
  2. Citrate
  3. 2-Oxoglutaric acid
  4. Lactate
  5. Ammonia
  6. pH
  7. early death
  8. speech development, delayed, abnormal
  9. microcephaly
  10. hypotonia
  11. progressive neurologic defect
  12. mental retardation
  13. seizures
  14. failure to thrive
  15. onset, infant
  16. cerebral atrophy
  17. lactic acidosis
  18. onset, newborn
  19. onset, fetus
  20. corpus callosum, agenesis/hypoplasia
  21. liver involvement (acute, chronic, hepatitis)
  22. large liver
  23. vomiting
  24. hyperammonemia
  25. metabolic acidosis
  26. polyhydramnion (maternal)
  27. EEG abnormalities -
  28. lethargy, drowsiness, malaise or sleep disorder
  29. irritability
  30. infantile spasms
  31. hydrocephalus
  32. MRI, brain, abnormalities -
  33. Succinate

GABA TRANSAMINASE DEFICIENCY Last update 22.09.2009_16:36:03
GABA TRANSAMINASE DEFICIENCY
  1. beta-Alanine
  2. gamma-Aminobutyric acid
  3. Homocarnosine
  4. GABA transaminase
  5. mental retardation
  6. hypotonia
  7. hyperreflexia
  8. seizures
  9. high pitched cry
  10. lethargy, drowsiness, malaise or sleep disorder
  11. increased growth velocity
  12. macrosomia
  13. Amino acid, spinal fluid
  14. Amino acids, plasma
  15. Citrulline

MYOCLONIC EPILEPSY AND RAGGED RED FIBER DISEASE (MERRF) Last update
MYOCLONIC EPILEPSY AND RAGGED RED FIBER DISEASE (MERRF)
  1. Lactate
  2. Lactate/Pyruvate ratio
  3. onset, child
  4. hearing defect, deafness
  5. ataxia
  6. seizures
  7. muscle weakness
  8. myoclonus
  9. mental retardation
  10. respiratory insufficiency
  11. headache (severe, recurrent or occipital, migraine)
  12. myopathy
  13. metabolic acidosis
  14. EEG abnormalities -
  15. PET (positron emission tomography), abnormal -
  16. VER, abnormal -
  17. Electron microscopy -
  18. lactic acidosis

2-KETOADIPIC ACIDEMIA Last update 02.12.2015_16:41:24
2-KETOADIPIC ACIDEMIA
  1. 2-Hydroxyadipic acid
  2. 2-Ketoadipic acid
  3. 2-Aminoadipic acid
  4. N-Acetyl-2-aminoadipic acid
  5. 2-Hydroxyglutaric acid (L)
  6. skin defects
  7. mental retardation
  8. hypotonia
  9. no clinical signs or symptoms
  10. seizures
  11. ataxia
  12. Organic acids, urine
  13. metabolic acidosis
  14. Amino acids, plasma
  15. Amino acids, urine
  16. Fumaric acid
  17. Malic acid
  18. Succinate

MYOADENYLATE DEAMINASE DEFICIENCY Last update
MYOADENYLATE DEAMINASE DEFICIENCY
  1. Creatinine kinase
  2. AMP-deaminase
  3. hypotonia
  4. exercise intolerance
  5. muscle cramps
  6. onset, child
  7. no clinical signs or symptoms
  8. brown colored urine
  9. EMG abnormalities -
  10. Myoglobin
  11. rhabdomyolysis
  12. onset, adolescent
  13. onset, adult

ZELLWEGER SYNDROME Last update 15.10.2012_20:26:31
ZELLWEGER SYNDROME
  1. Iron
  2. C26:1
  3. C24:0/C22:0
  4. Dihydroxyacetone-phosphate acyltransferase (DHAPAT)
  5. Phytanic acid oxidation
  6. C26:0/C22:0
  7. C26:0
  8. Phytanic acid
  9. Pipecolic acid
  10. Plasmalogens, biosynthesis
  11. Transaminases
  12. Bile acid intermediates
  13. Adipic acid
  14. Sebacic acid
  15. Azelaic acid
  16. Pimelic acid
  17. Suberic acid
  18. 12-Hydroxy-eicosatetraenoic acid
  19. 15-Hydroxy-eicosatetraenoic acid
  20. shortened gestation time
  21. birthweight low (small for gestational age)
  22. retinitis pigmentosa
  23. cataract
  24. round facies (moon-face, broad)
  25. high forehead
  26. ptosis (drooping eyelid)
  27. epicanthus or medial eyelid fold
  28. large mid-face (broad, prominent)
  29. hypotonia
  30. mental retardation
  31. motor retardation
  32. seizures
  33. renal cysts
  34. clitoral hypertrophy
  35. hyporeflexia
  36. glaucoma
  37. low set ears
  38. buphthalmus
  39. high arched palate
  40. cryptorchism
  41. cholestasis
  42. large liver
  43. cirrhosis or fibrosis of liver
  44. osteoporosis
  45. MRI, brain, abnormalities -
  46. dysmorphism
  47. early death
  48. onset, newborn
  49. nystagmus
  50. feeding difficulties, poor feeding
  51. congenital heart defect
  52. EEG abnormalities -
  53. liver failure
  54. Alkyl-dihydroxyacetone-phosphate synthase
  55. Peroxisomes, liver
  56. Very-long-chain fatty acid oxidation
  57. Peroxisomal Acyl-CoA oxidase
  58. Peroxisomal 3-oxoacyl-CoA thiolase
  59. Peroxisomal bifunctional enzyme
  60. Very-long-chain fatty acids
  61. Dicarboxylic acids, urine
  62. 8-iso-prostaglandin F2alpha
  63. 2-Hydroxysebacic acid
  64. 3-Hydroxysebacic acid

SULFITE OXIDASE DEFICIENCY Last update 19.01.2016_21:12:14
SULFITE OXIDASE DEFICIENCY
  1. Sulfocysteine
  2. Sulfite
  3. Thiosulfate
  4. Sulfite oxidase
  5. Sulfate
  6. early death
  7. ectropion
  8. progressive neurologic defect
  9. mental retardation
  10. ataxia
  11. seizures
  12. chorea or athetosis
  13. spastic diplegia/quadriplegia
  14. enophthalmus
  15. Amino acids, urine
  16. onset, newborn
  17. microcephaly
  18. dislocated lens (ectopia lentis)
  19. Homocysteine
  20. Taurine
  21. Cystine
  22. Xanthine
  23. S-Sulfocysteine
  24. feeding difficulties
  25. encephalopathy
  26. strokelike episodes
  27. hypotonia
  28. hypertonia, spasticity

LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY (LCAD) Last update
LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY (LCAD)
  1. Long-chain acyl-CoAs
  2. Long chain dicarboxylic acids
  3. Long chain acyl carnitines
  4. Suberic acid
  5. Sebacic acid
  6. Acylcarnitine/carnitine ratio
  7. Carnitine
  8. Glucose
  9. Lactate
  10. pH
  11. Transaminases
  12. Myoglobin
  13. Creatinine kinase
  14. Uric acid
  15. Long chain acyl-CoA dehydrogenase
  16. early death
  17. retinal or macular degeneration
  18. tachypnea, hyperpnea, dyspnea, respiratory distress
  19. hypotonia
  20. coma
  21. peripheral neuropathy
  22. feeding difficulties, poor feeding
  23. vomiting
  24. diarrhea
  25. onset, newborn
  26. onset, child
  27. cardiomyopathy
  28. edema
  29. preeclampsia, maternal
  30. large liver
  31. steatorrhea
  32. cirrhosis or fibrosis of liver
  33. myopathy
  34. encephalopathy
  35. brown colored urine
  36. Acylcarnitin, urine
  37. EEG abnormalities -
  38. ECG abnormalities -
  39. hypoglycemia
  40. rhabdomyolysis
  41. behavior, autism or autistic-like

MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY (MCAD) Last update 15.10.2012_20:41:42
MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY (MCAD)
  1. 5-Hydroxyhexanoic acid
  2. 7-Hydroxyoctanoic acid
  3. Adipic acid
  4. Suberic acid
  5. Octenedioic acid
  6. Sebacic acid
  7. Decenedioic acid
  8. Hexanoylglycine
  9. Phenylpropionylglycine
  10. Suberylglycine
  11. Adipic acid/3-Hydroxybutyric acid
  12. Ammonia
  13. Carnitine
  14. Glucose
  15. pH
  16. Aspartate aminotransferase (SGOT)
  17. Lactate dehydrogenase (LDH)
  18. Uric acid
  19. Acylcarnitin, urine
  20. 3-Hydroxysebacic acid
  21. early death
  22. coma
  23. lethargy, drowsiness, malaise or sleep disorder
  24. vomiting
  25. onset, newborn
  26. encephalopathy
  27. large liver
  28. seizures
  29. tachypnea, hyperpnea, dyspnea, respiratory distress
  30. onset, infant
  31. onset, child
  32. behavior, abnormal or bizarre, confusion
  33. muscle weakness
  34. speech development, delayed, abnormal
  35. failure to thrive
  36. no clinical signs or symptoms
  37. metabolic acidosis
  38. Organic acids, urine
  39. hypoglycemia
  40. hyperammonemia
  41. Octanoylcarnitine (C8)
  42. Octanoyl-/Decanoylcarnitine (C8/C10)
  43. HELLP syndrome
  44. Hexanoylcarnitine (C6)
  45. Decenoylcarnitine (C10:1)
  46. Hexanoic acid
  47. Octanoic acid

SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY (SCAD) Last update
SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY (SCAD)
  1. Acylcarnitine/carnitine ratio
  2. Ethylmalonic acid
  3. Glucose
  4. Methylsuccinic acid
  5. pH
  6. Butyrylglycine
  7. Hexanoylglycine
  8. Acyl-CoA dehydrogenase
  9. Lactate
  10. Adipic acid
  11. Ammonia
  12. muscle weakness
  13. hypotonia
  14. feeding difficulties, poor feeding
  15. failure to thrive
  16. onset, newborn
  17. onset, infant
  18. microcephaly
  19. rhabdomyolysis
  20. Organic acids, urine
  21. metabolic acidosis
  22. hypoglycemia
  23. hyperammonemia
  24. lactic acidosis
  25. vomiting
  26. cholestasis
  27. seizures
  28. Butyryl/Isobutyrylcarnitine (C4)
  29. maternal acute fatty liver of pregnancy
  30. peripheral neuropathy

GAUCHER DISEASE TYPE II Last update
GAUCHER DISEASE TYPE II
  1. Glucocerebrosidase
  2. strabismus
  3. swallowing difficulties
  4. mental retardation
  5. large liver
  6. large spleen
  7. infections (severe or recurrent)
  8. early death
  9. onset, infant
  10. hydrops fetalis
  11. onset, child
  12. seizures
  13. chorea or athetosis
  14. feeding difficulties, poor feeding
  15. neurological deterioration
  16. DNA
  17. beta-Glucosidase

BENIGN INFANTILE MITOCHONDRIAL MYOPATHY AND CARDIOMYOPATHY (BIMC) Last update 07.05.2016_09:43:37
BENIGN INFANTILE MITOCHONDRIAL MYOPATHY AND CARDIOMYOPATHY (BIMC)
  1. Lactate
  2. Complex I activity
  3. onset, newborn
  4. respiratory distress
  5. early death
  6. muscle weakness
  7. cardiomyopathy
  8. hypotonia
  9. metabolic acidosis
  10. lactic acidosis

CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ia Last update 02.01.2016_14:08:03
CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ia
  1. Phosphomannomutase
  2. Carbohydrate-deficient transferrins
  3. Transaminases
  4. Thyroxine binding globuline (TBG)
  5. Transferrin
  6. Tetrasialotransferrin
  7. Asialotransferrin
  8. Disialotransferrin
  9. alpha1-Antitrypsine
  10. Antithrombin III (AT III)
  11. Cholesterol
  12. Haptoglobin
  13. mental retardation
  14. motor retardation
  15. hypotonia
  16. hyporeflexia
  17. ataxia
  18. growth retardation
  19. strabismus
  20. cerebellar atrophy or hypoplasia
  21. lipodystrophia
  22. cataract
  23. ascites
  24. large liver
  25. cardiomyopathy
  26. early death
  27. nephrosis
  28. strokelike episodes
  29. retinopathy
  30. peripheral neuropathy
  31. retinitis pigmentosa
  32. skeletal changes
  33. seizures
  34. pericardial effusion
  35. renal cysts
  36. dysmorphism
  37. limb abnormalities, limb deformities
  38. clinodactyly
  39. liver involvement (acute, chronic, hepatitis)
  40. onset, child
  41. onset, infant
  42. failure to thrive
  43. feeding difficulties, poor feeding
  44. nephrotic syndrome, congenital
  45. Glycine
  46. MRI, brain, abnormalities -
  47. Coagulopathy/Coagulation factors
  48. enteropathy, protein-loosing
  49. inverted nipples
  50. nystagmus
  51. heart involvement
  52. hydrops fetalis
  53. intracranial hemorrhage
  54. hyperinsulinism
  55. hypoglycemia

LETHAL INFANTILE MITOCHONDRIAL DISEASE (LIMD) Last update
LETHAL INFANTILE MITOCHONDRIAL DISEASE (LIMD)
  1. Lactate
  2. Fanconi syndrome
  3. onset, newborn
  4. early death
  5. muscle weakness
  6. failure to thrive
  7. hypotonia
  8. myopathy
  9. liver involvement (acute, chronic, hepatitis)
  10. ophthalmoplegia
  11. cardiomyopathy
  12. MRI, brain, abnormalities -
  13. Amino acids, urine
  14. lactic acidosis

ADRENAL HYPOPLASIA. ADDISON DISEASE, X-LINKED Last update 24.01.2016_17:15:43
ADRENAL HYPOPLASIA. ADDISON DISEASE, X-LINKED
  1. Sodium
  2. Potassium
  3. Cortisol
  4. 17-Ketosteroids
  5. Glucose
  6. pH
  7. early death
  8. dehydration
  9. tachypnea, hyperpnea, dyspnea, respiratory distress
  10. growth retardation
  11. seizures
  12. feeding difficulties, poor feeding
  13. vomiting
  14. cyanosis
  15. hypotension
  16. hyperpigmentation
  17. Adrenocorticotropic hormone (ACTH)
  18. metabolic acidosis
  19. hypoglycemia
  20. failure to thrive
  21. cryptorchism

GLUCOCORTICOID DEFICIENCY, FAMILIAL ISOLATED. MIGEON SYNDROME Last update 16.10.2012_10:58:56
GLUCOCORTICOID DEFICIENCY, FAMILIAL ISOLATED. MIGEON SYNDROME
  1. Adrenocorticotropic hormone (ACTH)
  2. Glucose
  3. Cortisol
  4. early death
  5. mental retardation
  6. seizures
  7. lethargy, drowsiness, malaise or sleep disorder
  8. feeding difficulties, poor feeding
  9. defect of adrenal gland or function
  10. onset, child
  11. hyperpigmentation
  12. dysphagia
  13. hypoglycemia
  14. failure to thrive
  15. infections (severe or recurrent)
  16. onset, newborn
  17. short stature

ACTH DEFICIENCY, ISOLATED Last update 17.01.2016_22:34:28
ACTH DEFICIENCY, ISOLATED
  1. Adrenocorticotropic hormone (ACTH)
  2. Cortisol
  3. Glucose
  4. Potassium
  5. Sodium
  6. 17-Hydroxyketosteroids
  7. 17-Ketosteroids
  8. muscle weakness
  9. onset, adult
  10. onset, child
  11. nausea
  12. hypotension
  13. weight loss
  14. vomiting
  15. hypoglycemia
  16. Calcium

LESCH-NYHAN SYNDROME Last update
LESCH-NYHAN SYNDROME
  1. Uric acid
  2. Folate
  3. Hypoxanthin guanine phosphoribosyl transferase (HPRT)
  4. chorea or athetosis
  5. mental retardation
  6. behavior, self-mutilating or destructive
  7. spastic diplegia/quadriplegia
  8. gout
  9. urolithiasis
  10. nephrosis
  11. feeding difficulties, poor feeding
  12. vomiting
  13. growth retardation
  14. hypotonia
  15. anemia
  16. infections (urinary tract)
  17. hematuria
  18. onset, infant

TYROSINEMIA I Last update 02.12.2015_13:49:05
TYROSINEMIA I
  1. Succinylacetone
  2. 4-Hydroxyphenyllactic acid
  3. 4-Hydroxyphenylpyruvic acid
  4. 4-Hydroxyphenylacetic acid
  5. N-Acetyltyrosine
  6. Tyrosine
  7. alpha-Fetoprotein
  8. Glucose
  9. Methionine
  10. Phosphorus, inorganic
  11. fever
  12. ascites
  13. large liver
  14. jaundice
  15. irritability
  16. lethargy, drowsiness, malaise or sleep disorder
  17. vomiting
  18. diarrhea
  19. rickets
  20. cirrhosis or fibrosis of liver
  21. failure to thrive
  22. tubulopathy
  23. bleeding tendencies, hemorrhages
  24. rancid, fishy or cabbage odor
  25. edema
  26. Fanconi syndrome
  27. large kidneys
  28. liver carcinoma
  29. liver involvement (acute, chronic, hepatitis)
  30. onset, newborn
  31. onset, infant
  32. onset, child
  33. growth retardation
  34. melena
  35. cardiomyopathy
  36. Coagulopathy/Coagulation factors
  37. anemia
  38. liver failure
  39. Amino acids, plasma
  40. Organic acids, urine
  41. thrombopenia, thrombocytopenia
  42. Thrombocytes, Platelets
  43. Uracil
  44. Delta-aminolevulinic acid
  45. hypoglycemia
  46. Ferric chloride reaction
  47. 5-Oxoproline
  48. 4-Hydroxycyclohexylacetic acid
  49. Betaine
  50. neuropathy
  51. renal failure, acute/chronic
  52. nephrocalcinosis

LACTOSE INTOLERANCE Last update
LACTOSE INTOLERANCE
  1. Lactose
  2. pH
  3. vomiting
  4. failure to thrive
  5. dehydration
  6. onset, newborn
  7. cataract
  8. Amino acids, urine
  9. tubulopathy
  10. liver involvement (acute, chronic, hepatitis)
  11. renal tubular acidosis

CARNITINE PALMITOYL TRANSFERASE DEFICIENCY (I) Last update 03.02.2016_18:35:19
CARNITINE PALMITOYL TRANSFERASE DEFICIENCY (I)
  1. hyperammonemia
  2. Lactate dehydrogenase (LDH)
  3. Creatinine kinase
  4. Glucose
  5. Carnitine palmitoyltransferase I
  6. Carnitine
  7. muscle weakness
  8. coma
  9. large liver
  10. seizures
  11. muscle cramps
  12. onset, child
  13. Ammonia
  14. hypoglycemia
  15. liver failure
  16. onset, infant
  17. maternal acute fatty liver of pregnancy
  18. Long chain acyl carnitines
  19. HELLP syndrome
  20. renal tubular acidosis
  21. hypotonia
  22. encephalopathy
  23. vomiting
  24. diarrhea
  25. Palmitoylcarnitine (C16)
  26. mental retardation

LACTASE DEFICIENCY Last update
LACTASE DEFICIENCY
  1. Lactate
  2. diarrhea
  3. pain, abdominal
  4. onset, child
  5. onset, adolescent
  6. abdominal fullness
  7. breath hydrogen test
  8. flatulence

ALKAPTONURIA. HOMOGENTISIC ACID OXIDASE DEFICIENCY Last update 02.12.2015_15:03:25
ALKAPTONURIA. HOMOGENTISIC ACID OXIDASE DEFICIENCY
  1. Homogentisic acid
  2. Homogentisic acid oxidase
  3. arthritis
  4. pigmentation, skin and sclera
  5. onset, adult
  6. brown or black colored urine
  7. X-ray, abnormalities
  8. Organic acids, urine
  9. Ferric chloride reaction
  10. heart involvement
  11. urolithiasis
  12. pain, bones
  13. uveitis
  14. osteochronosis
  15. hemolysis
  16. methemoglobinemia

PYRUVATE DEHYDROGENASE DEFICIENCY (E3) Last update 06.01.2016_11:46:26
PYRUVATE DEHYDROGENASE DEFICIENCY (E3)
  1. Lactate
  2. Pyruvate, Pyruvic acid
  3. Lactate/Pyruvate ratio
  4. Leucine
  5. Isoleucine
  6. Valine
  7. 2-Hydroxybutyric acid
  8. 2-Hydroxyisovaleric acid
  9. 2-Oxoglutaric acid
  10. 2-Oxo-n-caproic acid
  11. Ammonia
  12. early death
  13. ataxia
  14. cortical or cerebral atrophy
  15. muscle weakness
  16. growth retardation
  17. cardiomyopathy
  18. tachypnea, hyperpnea, dyspnea, respiratory distress
  19. microcephaly
  20. mental retardation
  21. motor retardation
  22. onset, newborn
  23. brain, cortical or paraventricular cysts
  24. basal ganglia, changes
  25. Glucose
  26. hypoglycemia
  27. seizures
  28. Organic acids, urine
  29. metabolic acidosis
  30. 2-Oxoisovaleric acid
  31. lactic acidosis
  32. hyperammonemia
  33. failure to thrive
  34. stridor
  35. vomiting
  36. 2-Oxoisocaproic acid
  37. 2-Hydroxyisocaproic acid
  38. 2-Hydroxy-3-methylvaleric acid
  39. Citrulline
  40. liver failure
  41. encephalopathy

BENIGN INFANTILE MITOCHONDRIAL MYOPATHY (BIMM) Last update 07.05.2016_09:42:14
BENIGN INFANTILE MITOCHONDRIAL MYOPATHY (BIMM)
  1. Lactate
  2. Cytochrome c oxidase
  3. Complex IV activity
  4. muscle weakness
  5. hypotonia
  6. respiratory distress
  7. feeding difficulties, poor feeding
  8. onset, newborn
  9. lactic acidosis
  10. hyperreflexia
  11. areflexia
  12. failure to thrive
  13. large liver

LETHAL INFANTILE CARDIOMYOPATHY: X-LINKED CARDIOSKELETAL MYOPATHY (BARTH SYNDROME) Last update
LETHAL INFANTILE CARDIOMYOPATHY: X-LINKED CARDIOSKELETAL MYOPATHY (BARTH SYNDROME)
  1. 3-Methylglutaconic acid
  2. 2-Ethylhydracrilic acid
  3. Carnitine
  4. muscle weakness
  5. male
  6. cardiomyopathy
  7. early death
  8. infections (severe or recurrent)
  9. cardiomegaly
  10. growth retardation
  11. endocardial fibroelastosis
  12. short stature
  13. myopathy
  14. cardiac arrhythmia, dysrhythmia
  15. Organic acids, urine
  16. neutropenia (decreased neutrophils)
  17. 3-Methylglutaric acid
  18. Succinate

COBALAMIN MALABSORPTION Last update 14.10.2012_21:07:44
COBALAMIN MALABSORPTION
  1. Vitamin B12
  2. Methylmalonic acid
  3. Homocystine
  4. mental retardation
  5. neurological deterioration
  6. dementia
  7. EEG abnormalities -
  8. anemia
  9. muscle weakness
  10. growth retardation
  11. speech development, delayed, abnormal
  12. progressive neurologic defect
  13. infections (severe or recurrent)
  14. neutropenia (decreased neutrophils)
  15. thrombopenia, thrombocytopenia

DEHYDRATION, SEVERE, UNSPECIFIC Last update
DEHYDRATION, SEVERE, UNSPECIFIC
  1. Myoglobin
  2. Sodium
  3. Lactate dehydrogenase (LDH)
  4. pH
  5. Transaminases
  6. Bicarbonate
  7. pCO2
  8. fever
  9. vomiting
  10. diarrhea
  11. hypotension
  12. coma
  13. brown colored urine
  14. metabolic acidosis
  15. rhabdomyolysis
  16. tachykardia
  17. lethargy, drowsiness, malaise or sleep disorder

XANTHINURIA TYPE I Last update 08.01.2013_21:00:32
XANTHINURIA TYPE I
  1. Uric acid
  2. Xanthine
  3. urolithiasis
  4. myopathy
  5. arthritis
  6. arthralgia
  7. irritability
  8. infections (urinary tract)
  9. renal failure, acute/chronic
  10. onset, child
  11. onset, adolescent
  12. onset, adult
  13. pain, abdominal
  14. hematuria
  15. Hypoxanthine
  16. no clinical signs or symptoms

ARGININEMIA. HYPERARGININEMIA, ARGINASE DEFICIENCY Last update 24.01.2016_18:03:16
ARGININEMIA. HYPERARGININEMIA, ARGINASE DEFICIENCY
  1. Ammonia
  2. Arginine
  3. Urea nitrogen
  4. Uracil
  5. Argininosuccinate
  6. Orotic acid
  7. Arginase
  8. mental retardation
  9. seizures
  10. spastic diplegia/quadriplegia
  11. onset, child
  12. Amino acids, plasma
  13. Organic acids, urine
  14. vomiting
  15. hyperammonemia
  16. buphthalmus
  17. behavior, hyperactive, restless
  18. growth retardation
  19. jaundice
  20. MRI, brain, abnormalities -
  21. cerebral atrophy
  22. Guanidinoacetate
  23. Homoarginine
  24. Creatine
  25. onset, newborn
  26. onset, adult
  27. failure to thrive
  28. ataxia
  29. chorea or athetosis
  30. hypotonia
  31. microcephaly
  32. irritability

LYSINURIC PROTEIN INTOLERANCE (LPI) Last update 27.05.2009_21:50:41
LYSINURIC PROTEIN INTOLERANCE (LPI)
  1. Orotic acid
  2. Lysine
  3. Arginine
  4. Ammonia
  5. Glutamine
  6. Ornithine
  7. Thyroxine binding globuline (TBG)
  8. Ferritin
  9. Lactate dehydrogenase (LDH)
  10. Hydroxyproline
  11. cataract
  12. tachypnea, hyperpnea, dyspnea, respiratory distress
  13. growth retardation
  14. hypotonia
  15. mental retardation
  16. coma
  17. seizures
  18. lethargy, drowsiness, malaise or sleep disorder
  19. spastic diplegia/quadriplegia
  20. feeding difficulties, poor feeding
  21. vomiting
  22. diarrhea
  23. hypothermia
  24. onset, newborn
  25. onset, infant
  26. onset, child
  27. osteoporosis
  28. interstitial pneumonitis
  29. pancreatitis
  30. large liver
  31. large spleen
  32. renal failure, acute/chronic
  33. bone marrow abnormality
  34. failure to thrive
  35. bone fractures
  36. hair, abnormal (thin, brittle)
  37. X-ray, abnormalities
  38. Amino acids, urine
  39. neutropenia (decreased neutrophils)
  40. Retikulocytes
  41. anemia
  42. thrombopenia, thrombocytopenia
  43. Carnitine
  44. hyperammonemia
  45. respiratory distress
  46. pulmonary alveolar proteinosis
  47. Citrulline

LACTASE DEFICIENCY, CONGENITAL Last update
LACTASE DEFICIENCY, CONGENITAL
  1. Lactose
  2. Lactate
  3. Calcium
  4. diarrhea
  5. failure to thrive
  6. onset, newborn
  7. pain, abdominal
  8. dehydration
  9. nephrocalcinosis
  10. metabolic acidosis

KRABBE DISEASE Last update
KRABBE DISEASE
  1. Galactosylceramidase
  2. Protein, total, spinal fluid
  3. progressive neurologic defect
  4. irritability
  5. vomiting
  6. feeding difficulties, poor feeding
  7. seizures
  8. fever
  9. mental retardation
  10. motor retardation
  11. hypertonia, spasticity
  12. opisthotonus
  13. defect of deep tendon reflexes
  14. early death
  15. onset, infant
  16. respiratory insufficiency
  17. optic atrophy
  18. cerebral atrophy
  19. hyperacusis
  20. SEP (sensory evoked potentials), abnormal -
  21. blindness, visual loss, visual impairment
  22. CT, brain, abnormalities -
  23. MRI, brain, white matter abnormalities -
  24. EMG abnormalities -
  25. VEP (visual evoked potentials), abnormal -
  26. AEP (auditory evoked potentials), abnormal -
  27. peripheral neuropathy
  28. failure to thrive
  29. hearing defect, deafness

SIALIC ACID STORAGE DISEASE, INFANTILE TYPE Last update
SIALIC ACID STORAGE DISEASE, INFANTILE TYPE
  1. Sialic acid
  2. early death
  3. ascites
  4. hernia
  5. edema
  6. dysmorphism
  7. large liver
  8. large spleen
  9. epicanthus or medial eyelid fold
  10. diarrhea
  11. mental retardation
  12. dysostosis multiplex
  13. X-ray, abnormalities
  14. hypotonia
  15. failure to thrive
  16. nephrosis
  17. hair, abnormal (thin, brittle)
  18. skin, pigmentation
  19. cardiomegaly
  20. hypertonia, spasticity
  21. onset, fetus
  22. onset, newborn
  23. hydrops fetalis
  24. Organic acids, urine
  25. MRI, brain, abnormalities -
  26. Lymphocytes, vacuoles
  27. Electron microscopy -
  28. conjunctival biopsy, enlarged lysosomes
  29. nystagmus

ASPARTYLGLUCOSAMINURIA Last update 24.01.2016_18:46:25
ASPARTYLGLUCOSAMINURIA
  1. Aspartylglucosamine
  2. 4-N-2-acetamido-2-deoxy--D-glucopyrasonyl-L-asparagine
  3. onset, child
  4. macroglossia, large/protuding tongue
  5. Oligosaccharides
  6. mental retardation
  7. speech development, delayed, abnormal
  8. clumsiness, coordination defect or unsteadiness
  9. large or wide mouth
  10. skeletal changes
  11. lens opacities
  12. acne
  13. diarrhea
  14. infections (severe or recurrent)
  15. hernia
  16. normal at birth
  17. coarse facial features
  18. photophobia or photosensitive defect in light-exposed area
  19. neutropenia (decreased neutrophils)
  20. Lymphocytes, vacuoles
  21. macroorchidism
  22. heart involvement
  23. N-Aspartylglucosamine

TYROSINEMIA II Last update 02.12.2015_13:47:08
TYROSINEMIA II
  1. 4-Hydroxyphenylacetic acid
  2. 4-Hydroxyphenyllactic acid
  3. 4-Hydroxyphenylpyruvic acid
  4. N-Acetyltyrosine
  5. Tyrosine
  6. cataract
  7. growth retardation
  8. microcephaly
  9. mental retardation
  10. behavior, hyperactive, restless
  11. photophobia or photosensitive defect in light-exposed area
  12. microcornea
  13. glaucoma
  14. hyperkeratosis
  15. hyperlacrimation
  16. keratitis
  17. corneal clouding
  18. corneal deposits
  19. skin defects
  20. 4-Hydroxycyclohexylacetic acid

SIALIDOSIS TYPE II Last update
SIALIDOSIS TYPE II
  1. Sialyloligosaccharides
  2. alpha-Neuraminidase
  3. cherry-red spot on retinal macula
  4. dysostosis multiplex
  5. mental retardation
  6. prominent abdomen
  7. ascites
  8. onset, child
  9. blindness, visual loss, visual impairment
  10. night blindness
  11. myoclonus
  12. nystagmus
  13. ataxia
  14. dysmorphism
  15. cardiomegaly
  16. hydrops fetalis
  17. tubulopathy
  18. angiokeratoma
  19. Lymphocytes, vacuoles
  20. onset, adult
  21. onset, adolescent
  22. coarse facial features
  23. onset, newborn
  24. short stature
  25. vertebral changes
  26. lens opacities
  27. progressive neurologic defect
  28. hearing defect, deafness
  29. hypotonia
  30. large liver
  31. large spleen
  32. edema

DUCHENNE MUSCULAR DYSTROPHY Last update 24.01.2016_19:34:11
DUCHENNE MUSCULAR DYSTROPHY
  1. Creatinine kinase
  2. onset, child
  3. onset, adult
  4. muscle weakness
  5. cardiomyopathy
  6. EMG abnormalities -

BECKWITH-WIEDEMANN SYNDROME. EXOMPHALOS-MAKROGLOSSIA-GIGANTISM SYNDROME Last update 24.01.2016_18:50:03
BECKWITH-WIEDEMANN SYNDROME. EXOMPHALOS-MAKROGLOSSIA-GIGANTISM SYNDROME
  1. Insulin
  2. Glucose
  3. birthweight high (large for gestational age)
  4. hyperinsulinism
  5. large mid-face (broad, prominent)
  6. macroglossia, large/protuding tongue
  7. omphalocele
  8. large spleen
  9. ventricular septal defect
  10. ear anomalies (pits, creases)
  11. nevus flammeus
  12. hemihypertrophy
  13. malignant tumor (Wilms)
  14. macrosomia
  15. tall stature
  16. hypoglycemia

TRIMETHYLAMINURIA Last update 16.05.2016_16:29:39
TRIMETHYLAMINURIA
  1. Trimethylamin
  2. no clinical signs or symptoms
  3. rotting fish odor
  4. behavior, self-mutilating or destructive
  5. MRS, brain, abnormalities -
  6. Trimethylamin-N-oxide
  7. depression
  8. infections (severe or recurrent)
  9. large spleen
  10. anemia
  11. neutropenia (decreased neutrophils)

HYPERPHENYLALANINEMIA DUE TO 6-PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY (PTPS) Last update 03.12.2015_12:44:49
HYPERPHENYLALANINEMIA DUE TO 6-PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY (PTPS)
  1. Phenylalanine
  2. Biopterin
  3. Neopterin
  4. 6-Pyruvoyl tetrahydropterin synthase
  5. % Biopterin
  6. 5-Hydroxyindolacetic acid
  7. progressive neurologic defect
  8. mental retardation
  9. seizures
  10. fever
  11. ataxia
  12. hyperthermia
  13. hypotonia
  14. hypertonia, spasticity
  15. neurological deterioration
  16. oculogyric crisis
  17. swallowing difficulties
  18. irritability
  19. microcephaly
  20. hypersalivation
  21. chorea or athetosis
  22. MRI, brain, white matter abnormalities -
  23. Amino acids, plasma
  24. Organic acids, urine
  25. EEG abnormalities -
  26. early death
  27. onset, newborn
  28. onset, infant
  29. pneumonia
  30. skin rushes
  31. temperature instability
  32. birthweight low (small for gestational age)
  33. Homovanillic acid
  34. Tetrahydrobiopterin (BH4) loading test

LIVER DISEASE, LIVER FAILURE, UNSPECIFIC Last update
LIVER DISEASE, LIVER FAILURE, UNSPECIFIC
  1. N-Acetyltryptophane
  2. N-Acetyltyrosine
  3. Ammonia
  4. Lactate
  5. pH
  6. Transaminases
  7. early death
  8. jaundice
  9. coma
  10. seizures
  11. thromboembolism
  12. hypotension
  13. Kynurenine
  14. bleeding time
  15. Organic acids, urine
  16. lactic acidosis
  17. hyperammonemia
  18. bleeding tendencies, hemorrhages
  19. ascites
  20. large liver
  21. pruritus
  22. teleangiectasia
  23. encephalopathy
  24. Coagulopathy/Coagulation factors

BIOTINIDASE DEFICIENCY Last update 05.01.2016_19:27:21
BIOTINIDASE DEFICIENCY
  1. 3-Methylcrotonylglycine
  2. 3-Hydroxypropionic acid
  3. Methylcitric acid
  4. 3-Hydroxybutyric acid
  5. Lactate
  6. 3-Hydroxyisovaleric acid
  7. Citrate
  8. 2-Hydroxybutyric acid
  9. Ammonia
  10. pH
  11. fetal akinesia/hypokinesia sequence
  12. early death
  13. infections (severe or recurrent)
  14. optic atrophy
  15. hearing defect, deafness
  16. tachypnea, hyperpnea, dyspnea, respiratory distress
  17. stridor
  18. hypotonia
  19. coma
  20. motor retardation
  21. ataxia
  22. seizures
  23. vomiting
  24. onset, newborn
  25. seborrhoic skin rush
  26. conjunctivitis
  27. eczematoid skin rush
  28. cerebral atrophy
  29. alopecia
  30. infantile spasms
  31. hair loss
  32. metabolic acidosis
  33. Ketone bodies
  34. Acylcarnitin, urine
  35. ketosis
  36. lactic acidosis
  37. hyperammonemia
  38. onset, infant
  39. onset, child
  40. onset, adolescent
  41. fatigue, severe or unusual
  42. muscle weakness
  43. spastic diplegia/quadriplegia
  44. speech development, delayed, abnormal
  45. 3-Hydroxyisovalerylcarnitine (C5-OH)
  46. spinal cord demyelinisation
  47. encephalopathy
  48. hypertonia, spasticity
  49. Biocytin

CARNITINE DEFICIENCY, MYOPATHIC Last update 01.02.2016_22:39:30
CARNITINE DEFICIENCY, MYOPATHIC
  1. Carnitine
  2. Glucose
  3. Ammonia
  4. Transaminases
  5. infections (severe or recurrent)
  6. muscle weakness
  7. pain, muscle
  8. failure to thrive
  9. large liver
  10. cardiomyopathy
  11. encephalopathy
  12. early death
  13. Dicarboxylic acids, urine
  14. hypoglycemia
  15. hyperammonemia

2-HYDROXYGLUTARIC ACIDURIA (D) TYPE I Last update 07.12.2015_20:32:55
2-HYDROXYGLUTARIC ACIDURIA (D) TYPE I
  1. 2-Hydroxyglutaric acid (D)
  2. hypotonia
  3. mental retardation
  4. seizures
  5. hyperpigmentation
  6. blindness, visual loss, visual impairment
  7. alopecia
  8. infantile spasms
  9. EEG abnormalities -
  10. Organic acids, urine
  11. Organic acids, plasma
  12. Organic acid, spinal fluid
  13. 2-Oxoglutaric acid
  14. gamma-Aminobutyric acid
  15. vomiting
  16. dysmorphism
  17. macrocephaly (large calvaria, >2 SD for age)
  18. anemia
  19. irritability
  20. onset, newborn
  21. onset, infant
  22. corpus callosum, agenesis/hypoplasia
  23. bleeding tendencies, hemorrhages
  24. MRI, brain, abnormalities -
  25. metaphyseal dysplasia
  26. peripheral neuropathy
  27. Succinate

FEEDING: MCT-FORMULAS DD Last update 15.07.2016_12:57:58
FEEDING: MCT-FORMULAS DD
  1. Adipic acid
  2. Suberic acid
  3. Sebacic acid
  4. 5-Hydroxyhexanoic acid
  5. 7-Hydroxyoctanoic acid
  6. 3-Hydroxyadipic/Adipic acid
  7. no clinical signs or symptoms
  8. 3-Hydroxyadipic acid
  9. Dicarboxylic acids, urine
  10. Organic acids, urine

CARBAMOYL PHOSPHATE SYNTHETASE DEFICIENCY (CPS) Last update 01.02.2016_22:16:05
CARBAMOYL PHOSPHATE SYNTHETASE DEFICIENCY (CPS)
  1. Ammonia
  2. Glutamine
  3. Glycine
  4. Lysine
  5. Uracil
  6. Carbamylphosphate synthetase
  7. Urea nitrogen
  8. tachypnea, hyperpnea, dyspnea, respiratory distress
  9. growth retardation
  10. hypotonia
  11. mental retardation
  12. coma
  13. ataxia
  14. seizures
  15. lethargy, drowsiness, malaise or sleep disorder
  16. spastic diplegia/quadriplegia
  17. feeding difficulties, poor feeding
  18. vomiting
  19. hypothermia
  20. failure to thrive
  21. onset, newborn
  22. hyperammonemia
  23. 5-Oxoproline
  24. Citrulline
  25. onset, adolescent
  26. onset, infant
  27. onset, adult
  28. Suberic acid
  29. irritability
  30. cerebral edema
  31. Arginine
  32. Orotic acid

SALLA DISEASE Last update
SALLA DISEASE
  1. Sialic acid
  2. normal at birth
  3. ataxia
  4. speech development, delayed, abnormal
  5. hypotonia
  6. onset, child
  7. mental retardation
  8. nystagmus
  9. motor retardation
  10. growth retardation
  11. athetosis
  12. seizures
  13. coarse facial features
  14. MRI, brain, abnormalities -
  15. EEG abnormalities -
  16. N-Acetylneuraminic acid

MULTIPLE CARBOXYLASE DEFICIENCY, NEONATAL OR EARLY ONSET FORM Last update
MULTIPLE CARBOXYLASE DEFICIENCY, NEONATAL OR EARLY ONSET FORM
  1. 3-Hydroxyisovaleric acid
  2. 3-Methylcrotonylglycine
  3. Methylcitric acid
  4. 3-Hydroxypropionic acid
  5. Ammonia
  6. Lactate
  7. pH
  8. early death
  9. infections (severe or recurrent)
  10. hypotonia
  11. mental retardation
  12. coma
  13. motor retardation
  14. lethargy, drowsiness, malaise or sleep disorder
  15. vomiting
  16. onset, newborn
  17. onset, child
  18. skin rushes
  19. alopecia
  20. encephalopathy
  21. tomcats urine odor
  22. Ketone bodies
  23. metabolic acidosis
  24. ketosis
  25. hyperammonemia
  26. seizures
  27. 3-Hydroxyisovalerylcarnitine (C5-OH)
  28. Tiglylglycine
  29. 3-Hydroxyvaleric acid

CARDIOMYOPATHY, FAMILIAL DILATED Last update 01.02.2016_22:32:27
CARDIOMYOPATHY, FAMILIAL DILATED
  1. cardiomegaly
  2. cardiomyopathy

KETOSIS, UNSPECIFIC DD Last update 14.05.2016_11:01:35
KETOSIS, UNSPECIFIC DD
  1. 3-Hydroxybutyric acid
  2. Acetoacetic acid
  3. 3-Hydroxyisobutyric acid
  4. 2-Methyl-3-hydroxybutyric acid
  5. Adipic acid
  6. Suberic acid
  7. Adipic acid/3-Hydroxybutyric acid
  8. 3-Hydroxyisovaleric acid
  9. diarrhea
  10. vomiting
  11. feeding difficulties, poor feeding
  12. metabolic acidosis
  13. Ketone bodies
  14. Organic acids, urine
  15. ketosis

CARNOSINURIA, CARNOSINEMIA Last update 16.05.2016_16:02:10
CARNOSINURIA, CARNOSINEMIA
  1. Carnosine
  2. Carnosinase
  3. mental retardation
  4. seizures
  5. hearing defect, deafness
  6. no clinical signs or symptoms
  7. Amino acids, plasma
  8. Amino acids, urine
  9. Homocarnosine

CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ib Last update 27.12.2015_14:12:19
CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ib
  1. enteropathy, protein-loosing
  2. thromboembolism
  3. vomiting
  4. hypoglycemia
  5. liver involvement (acute, chronic, hepatitis)
  6. Coagulopathy/Coagulation factors
  7. large liver
  8. failure to thrive
  9. diarrhea
  10. edema
  11. Albumin
  12. Sodium
  13. Cholesterol
  14. Thrombocytes, Platelets
  15. Transferrin
  16. hyperinsulinism
  17. cirrhosis or fibrosis of liver
  18. no clinical signs or symptoms
  19. hypotonia
  20. bleeding tendencies, hemorrhages
  21. onset, child

27-HYDROXYLASE DEFICIENCY Last update 02.12.2015_17:06:25
27-HYDROXYLASE DEFICIENCY
  1. Cholestanol
  2. Cholesterol
  3. 27-Hydroxylase
  4. xanthoma
  5. neurological deterioration
  6. ataxia
  7. cataract
  8. mental retardation
  9. atherosclerosis
  10. paraparesis/paraplegia
  11. onset, child
  12. onset, adult
  13. onset, adolescent
  14. hypertonia, spasticity
  15. dysarthria
  16. behavior, abnormal or bizarre, confusion
  17. peripheral neuropathy
  18. seizures
  19. EEG abnormalities -
  20. MRI, brain, abnormalities -
  21. heart involvement
  22. myocardial infarction
  23. respiratory insufficiency
  24. onset, newborn
  25. liver involvement (acute, chronic, hepatitis)
  26. cholestasis
  27. diarrhea

PEROXISOMAL DISORDERS, NEW TYPE, LIVER Last update
PEROXISOMAL DISORDERS, NEW TYPE, LIVER
  1. C26:0
  2. C26:0/C22:0
  3. C24:0/C22:0
  4. Pipecolic acid
  5. Phytanic acid
  6. Pristanic acid
  7. Bile acid intermediates
  8. nystagmus
  9. retinitis pigmentosa
  10. hearing defect, deafness
  11. hypotonia
  12. progressive neurologic defect
  13. mental retardation
  14. strabismus
  15. athetosis
  16. onset, child
  17. CT, brain, abnormalities -
  18. Peroxisomes, liver
  19. Very-long-chain fatty acids

PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY 2 (PEPCK2) Last update
PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY 2 (PEPCK2)
  1. Lactate
  2. Glucose
  3. Pyruvate, Pyruvic acid
  4. Lactate/Pyruvate ratio
  5. Cholesterol
  6. Triglycerides
  7. Phosphoenolpyruvate carboxykinase
  8. liver, fatty
  9. early death
  10. Fanconi syndrome
  11. large liver
  12. hypotonia
  13. failure to thrive
  14. fever
  15. seizures
  16. coma
  17. lethargy, drowsiness, malaise or sleep disorder
  18. onset, infant
  19. onset, newborn
  20. tubulopathy
  21. mental retardation
  22. liver involvement (acute, chronic, hepatitis)
  23. cardiomyopathy
  24. hypoglycemia
  25. lactic acidosis

AMINOACYLASE I DEFICIENCY Last update 24.01.2016_17:44:37
AMINOACYLASE I DEFICIENCY
  1. onset, newborn
  2. seizures
  3. feeding difficulties, poor feeding
  4. hearing defect, deafness
  5. N-acetylserine
  6. N-acetylglutamate
  7. N-acetylalanine
  8. N-acetylmethionine
  9. N-acetylglycine
  10. N-acetylthreonine
  11. N-acetylleucine
  12. N-acetylvaline
  13. N-acetylisoleucine
  14. cortical or cerebral atrophy
  15. MRI, brain, abnormalities -
  16. Aminoacylase I
  17. muscle weakness
  18. N-Acetylasparagine
  19. N-Acetylglutamine
  20. hypotonia
  21. motor retardation
  22. encephalopathy
  23. cerebellar atrophy or hypoplasia
  24. behavior, hyperactive, restless
  25. no clinical signs or symptoms
  26. behavior, autism or autistic-like

CHOLESTERYL ESTER STORAGE DISEASE Last update 27.08.2009_14:34:38
CHOLESTERYL ESTER STORAGE DISEASE
  1. Cholesterol
  2. Triglycerides
  3. onset, child
  4. large liver
  5. large spleen
  6. cirrhosis or fibrosis of liver
  7. liver failure
  8. xanthoma
  9. adrenal calcification
  10. pain, abdominal
  11. eosinophilia

CHONDRODYSPLASIA PUNCTATA, AUTOSOMAL DOMINANT Last update 09.05.2016_20:08:27
CHONDRODYSPLASIA PUNCTATA, AUTOSOMAL DOMINANT
  1. cataract
  2. no specific laboratory findings
  3. flat depressed nasal bridge (saddle nose)
  4. feeding difficulties, poor feeding
  5. respiratory distress
  6. X-ray, abnormalities
  7. onset, newborn
  8. dysmorphism
  9. nystagmus
  10. microphthalmus
  11. glaucoma
  12. ichthyosis
  13. hyperkeratosis
  14. alopecia
  15. limb abnormalities, limb deformities
  16. hypertelorism
  17. high arched palate
  18. punctate calcifications

CARNITINE TRANSPORTER DEFECT. PRIMARY SYSTEMIC CARNITINE DEFICIENCY Last update 03.02.2016_18:45:39
CARNITINE TRANSPORTER DEFECT. PRIMARY SYSTEMIC CARNITINE DEFICIENCY
  1. Carnitine
  2. Ammonia
  3. Glucose
  4. Transaminases
  5. Carnitine uptake
  6. early death
  7. infections (severe or recurrent)
  8. muscle weakness
  9. pain, muscle
  10. failure to thrive
  11. onset, infant
  12. cardiomyopathy
  13. encephalopathy
  14. myopathy
  15. Dicarboxylic acids, urine
  16. hypoglycemia
  17. hyperammonemia
  18. liver involvement (acute, chronic, hepatitis)
  19. metabolic acidosis
  20. onset, child
  21. Acylcarnitin, urine
  22. peripheral neuropathy
  23. anemia

CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT Last update 09.05.2016_20:04:25
CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT
  1. early death
  2. cataract
  3. short stature
  4. ichthyosis
  5. dysmorphism
  6. alopecia
  7. X-ray, abnormalities
  8. saddle nose
  9. kyphoskoliosis
  10. hyperkeratosis
  11. punctate calcifications
  12. limb abnormalities, limb deformities
  13. failure to thrive
  14. mental retardation
  15. 8-Dehydrocholesterol
  16. 8(9)-cholestenol

CITRULLINEMIA TYPE I Last update 05.05.2016_11:03:29
CITRULLINEMIA TYPE I
  1. Citrulline
  2. Glycine
  3. Ammonia
  4. Transaminases
  5. Orotic acid
  6. Argininosuccinate synthetase
  7. early death
  8. tachypnea, hyperpnea, dyspnea, respiratory distress
  9. hypotonia
  10. mental retardation
  11. coma
  12. seizures
  13. lethargy, drowsiness, malaise or sleep disorder
  14. feeding difficulties, poor feeding
  15. vomiting
  16. onset, newborn
  17. onset, adult
  18. irritability
  19. hypothermia
  20. Organic acids, urine
  21. Amino acids, urine
  22. Amino acids, plasma
  23. CT, brain, abnormalities -
  24. hyperammonemia
  25. Uric acid
  26. strokelike episodes
  27. N-Acetylcitrulline
  28. Orotidine

HUMAN GROWTH HORMONE DEFICIENCY Last update 06.12.2015_11:44:11
HUMAN GROWTH HORMONE DEFICIENCY
  1. Human growth hormone (hGH)
  2. Glucose
  3. Insulin-like growth factor I(IGF-I)
  4. Insulin-like growth factor binding protein 3 (IGFBP-3)
  5. growth retardation
  6. facies, cherubic (dolls face)
  7. short stature
  8. voice, high pitched
  9. dentition delayed
  10. obesity
  11. micropenis
  12. normal at birth
  13. growth hormone, spontaneous secretion
  14. Human growth hormone (hGH)
  15. hypoglycemia

CARNITINE PALMITOYL TRANSFERASE DEFICIENCY (II) Last update 03.02.2016_18:35:26
CARNITINE PALMITOYL TRANSFERASE DEFICIENCY (II)
  1. Creatinine kinase
  2. Glucose
  3. Lactate dehydrogenase (LDH)
  4. Myoglobin
  5. Transaminases
  6. Long chain acyl carnitines
  7. Carnitine palmitoyltransferase II
  8. Ammonia
  9. early death
  10. onset, newborn
  11. pain, muscle
  12. onset, child
  13. Dicarboxylic acids, urine
  14. muscle cramps
  15. pancreatitis
  16. renal failure, acute/chronic
  17. coma
  18. seizures
  19. cardiac arrhythmia, dysrhythmia
  20. cardiomyopathy
  21. dysmorphism
  22. renal cysts
  23. brain, cortical or paraventricular cysts
  24. encephalopathy
  25. brown colored urine
  26. hypoglycemia
  27. rhabdomyolysis
  28. lethargy, drowsiness, malaise or sleep disorder
  29. vomiting
  30. sweating
  31. large liver
  32. Palmitoylcarnitine (C16)
  33. Oleoylcarnitine (C18:1)
  34. onset, infant

3-BETA-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY Last update 02.12.2015_17:17:33
3-BETA-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY
  1. Glucose
  2. Potassium
  3. Sodium
  4. 17-Ketosteroids
  5. Pregnenolone
  6. 17-Hydroxypregnenolone
  7. Dehydroepiandrosterone (DHEA)
  8. 16-Hydroxy-dehydroepiandrosterone
  9. dehydration
  10. vomiting
  11. hyperpigmentation
  12. clitoral hypertrophy
  13. hypospadia
  14. virilisation
  15. genitalia, ambigous
  16. masculinisation of the female
  17. Adrenocorticotropic hormone (ACTH)
  18. Cortisol
  19. hypoglycemia
  20. 17-Hydroxy-Progesteron
  21. no clinical signs or symptoms
  22. cirrhosis or fibrosis of liver

CONGENITAL CHLORIDE DIARRHEA Last update 05.05.2016_12:02:35
CONGENITAL CHLORIDE DIARRHEA
  1. Chloride
  2. Sodium
  3. Potassium
  4. diarrhea
  5. dehydration
  6. onset, newborn
  7. jaundice
  8. metabolic alkalosis
  9. abdominal distension
  10. polyhydramnion (maternal)
  11. hyperaldosteronism
  12. onset, fetus
  13. ileus
  14. failure to thrive
  15. growth retardation
  16. Aldosterone

ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE II: , KANZAKI DISEASE Last update 24.01.2016_16:15:29
ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE II: , KANZAKI DISEASE
  1. alpha-N-Acetylgalactosaminidase
  2. Oligosaccharides
  3. Glycopeptides
  4. Lymphocytes, vacuoles
  5. onset, adult
  6. angiokeratoma
  7. coarse facial features
  8. mental retardation
  9. hyperkeratosis
  10. hearing defect, deafness
  11. skin, abnormal
  12. lymyphedema
  13. vertigo, dizziness
  14. peripheral neuropathy
  15. muscle weakness

CONGENITAL SECRETORY DIARRHOEA Last update 08.05.2016_17:53:29
CONGENITAL SECRETORY DIARRHOEA
  1. Bicarbonate
  2. diarrhea
  3. onset, newborn
  4. polyhydramnion (maternal)
  5. abdominal distension
  6. metabolic acidosis
  7. renal failure, acute/chronic
  8. Sodium
  9. macrocephaly (large calvaria, >2 SD for age)
  10. low set ears

IMINOGLYCINURIA Last update 16.05.2016_14:29:14
IMINOGLYCINURIA
  1. Glycine
  2. Proline
  3. Hydroxyproline
  4. no clinical signs or symptoms
  5. urolithiasis
  6. Amino acids, urine
  7. mental retardation

CONGENITAL LACTIC ACIDOSIS Last update 07.05.2016_20:17:05
CONGENITAL LACTIC ACIDOSIS
  1. Lactate
  2. Pyruvate, Pyruvic acid
  3. ataxia
  4. tachypnea, hyperpnea, dyspnea, respiratory distress
  5. encephalopathy
  6. early death
  7. metabolic acidosis
  8. lactic acidosis
  9. hypoglycemia
  10. respiratory insufficiency
  11. hypotonia
  12. dystonia
  13. seizures
  14. failure to thrive
  15. Methylmalonic acid
  16. cerebral atrophy
  17. onset, infant
  18. mental retardation
  19. motor retardation

EPILEPSY, BENIGN NEONATAL Last update 22.09.2009_15:56:10
EPILEPSY, BENIGN NEONATAL
  1. no specific laboratory findings
  2. seizures
  3. onset, newborn
  4. apnea

gamma-CYSTATHIONASE DEFICIENCY (CTH) Last update 01.12.2015_21:23:23
gamma-CYSTATHIONASE DEFICIENCY (CTH)
  1. Cystathionine
  2. gamma-Cystathionase
  3. N-Acetylcystathionine
  4. diabetes insipidus
  5. mental retardation
  6. congenital heart defect
  7. seizures
  8. ear anomalies (pits, creases)
  9. behavior, hyperactive, restless
  10. no clinical signs or symptoms
  11. Amino acids, plasma
  12. Amino acids, urine

CYSTIC FIBROSIS (CF) Last update 14.05.2016_11:29:45
CYSTIC FIBROSIS (CF)
  1. Chloride
  2. Sodium
  3. Immunreactive trypsin
  4. cirrhosis or fibrosis of liver
  5. pancreatic insufficiency
  6. infections (severe or recurrent)
  7. ileus
  8. respiratory insufficiency
  9. pneumonia
  10. failure to thrive
  11. onset, newborn
  12. onset, infant
  13. growth retardation
  14. liver failure
  15. jaundice
  16. rectal prolaps
  17. nasal polyposis
  18. pseudotumor cerebri
  19. onset, adult
  20. onset, adolescent
  21. onset, child
  22. DNA
  23. Vitamin D
  24. Vitamin A
  25. Vitamin E
  26. Glucose tolerance, impaired

CYSTINOSIS Last update 14.05.2016_11:32:27
CYSTINOSIS
  1. Cystine
  2. Potassium
  3. Phosphorus, inorganic
  4. Cholesterol
  5. Creatinine
  6. Thyroid-stimulating hormone (TSH)
  7. Thyroxine (T4)
  8. corneal deposits
  9. polyuria
  10. polydipsia (increased drinking)
  11. fever
  12. rickets
  13. growth retardation
  14. short stature
  15. Fanconi syndrome
  16. feeding difficulties, poor feeding
  17. dehydration
  18. photophobia or photosensitive defect in light-exposed area
  19. renal failure, acute/chronic
  20. retinopathy
  21. hypothyroidism
  22. myopathy
  23. cerebral atrophy
  24. liver involvement (acute, chronic, hepatitis)
  25. large spleen
  26. pancreatic insufficiency
  27. encephalopathy
  28. strokelike episodes
  29. onset, infant
  30. onset, child
  31. onset, adult
  32. Glucose tolerance, impaired
  33. Amino acids, urine
  34. metabolic acidosis

FEEDING: AMINO ACID FORMULA DD Last update 15.07.2016_12:57:31
FEEDING: AMINO ACID FORMULA DD
  1. 5-Oxoproline
  2. no clinical signs or symptoms
  3. Octenylsuccinic acid
  4. Organic acids, urine
  5. 3-Hydroxyisovaleric acid
  6. alopecia
  7. seborrhoic skin rush
  8. onset, infant
  9. 3-Methylcrotonylglycine
  10. Methylcitric acid

CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY Last update 03.02.2016_20:42:04
CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY
  1. Carnitine
  2. Lactate
  3. Dicarboxylic acids, urine
  4. Adipic acid
  5. Acylcarnitin, urine
  6. Ammonia
  7. Glucose
  8. Carnitine-acylcarnitine translocase
  9. Sebacic acid
  10. Suberic acid
  11. early death
  12. vomiting
  13. coma
  14. cardiac arrhythmia, dysrhythmia
  15. cardiomyopathy
  16. hypotonia
  17. liver failure
  18. onset, newborn
  19. large liver
  20. seizures
  21. encephalopathy
  22. Organic acids, urine
  23. hypoglycemia
  24. hyperammonemia
  25. lactic acidosis
  26. muscle weakness
  27. hypothermia

CYSTINURIA Last update 15.05.2016_16:14:25
CYSTINURIA
  1. Cystine
  2. Lysine
  3. Arginine
  4. Ornithine
  5. Cysteine-homocysteine disulfide
  6. pain, abdominal
  7. urolithiasis
  8. infections (urinary tract)
  9. onset, adult
  10. X-ray, abnormalities
  11. ultrasound, abdominal, abnormal -
  12. renal failure, acute/chronic
  13. sulfurous odor
  14. Amino acids, urine
  15. hematuria
  16. onset, adolescent

RENAL TUBULAR ACIDOSIS, DISTAL, RTA TYPE I Last update
RENAL TUBULAR ACIDOSIS, DISTAL, RTA TYPE I
  1. Potassium
  2. pH
  3. Chloride
  4. Calcium
  5. nephrocalcinosis
  6. failure to thrive
  7. vomiting
  8. dehydration
  9. onset, child
  10. infections (urinary tract)
  11. metabolic acidosis
  12. onset, infant
  13. onset, adult

PYRUVATE CARBOXYLASE DEFICIENCY Last update
PYRUVATE CARBOXYLASE DEFICIENCY
  1. Pyruvate, Pyruvic acid
  2. Ammonia
  3. Citrulline
  4. Lactate
  5. Lysine
  6. pH
  7. Lactate/Pyruvate ratio
  8. 3-Hydroxybutyrate/Acetoacetate
  9. 2-Oxoglutaric acid
  10. birthweight low (small for gestational age)
  11. early death
  12. eye movements, abnormal
  13. tachypnea, hyperpnea, dyspnea, respiratory distress
  14. hypotonia
  15. ataxia
  16. seizures
  17. irritability
  18. hydrocephalus
  19. vomiting
  20. failure to thrive
  21. onset, newborn
  22. onset, infant
  23. encephalopathy
  24. large liver
  25. metabolic acidosis
  26. hypoglycemia
  27. Amino acids, plasma
  28. Organic acids, urine
  29. Succinate
  30. Fumaric acid
  31. Proline
  32. Ketone bodies
  33. ketosis
  34. Alanine
  35. Glucose
  36. lactic acidosis
  37. hyperammonemia
  38. Pyruvate carboxylase
  39. mental retardation
  40. renal tubular acidosis
  41. abnormal movement
  42. MRI, brain, abnormalities -
  43. 3-Hydroxybutyric acid
  44. Acetone

PSEUDO ZELLWEGER -> D-BIFUNCTIONAL PROTEIN DEFICIENCY Last update
PSEUDO ZELLWEGER -> D-BIFUNCTIONAL PROTEIN DEFICIENCY
  1. Pipecolic acid
  2. early death
  3. neurological deterioration
  4. renal cysts
  5. dysmorphism
  6. Very-long-chain fatty acid oxidation
  7. Peroxisomal 3-oxoacyl-CoA thiolase
  8. Very-long-chain fatty acids
  9. seizures

REYE SYNDROME Last update
REYE SYNDROME
  1. Ammonia
  2. Glucose
  3. pH
  4. Transaminases
  5. tachypnea, hyperpnea, dyspnea, respiratory distress
  6. coma
  7. pancreatitis
  8. encephalopathy
  9. hypoglycemia
  10. hyperammonemia
  11. lethargy, drowsiness, malaise or sleep disorder
  12. seizures
  13. EEG abnormalities -
  14. defect of deep tendon reflexes
  15. liver involvement (acute, chronic, hepatitis)
  16. Creatinine kinase
  17. Lactate dehydrogenase (LDH)
  18. Coagulopathy/Coagulation factors

RENAL FANCONI SYNDROME Last update
RENAL FANCONI SYNDROME
  1. pH
  2. Potassium
  3. Parathyroid hormone (PTH)
  4. Glucose
  5. Phosphorus, inorganic
  6. Amino acids, urine
  7. tubulopathy
  8. rickets
  9. dehydration
  10. growth retardation
  11. polyuria
  12. polydipsia (increased drinking)
  13. metabolic acidosis
  14. glucosuria
  15. renal failure, acute/chronic

PYRUVATE DEHYDROGENASE DEFICIENCY (E1) Last update
PYRUVATE DEHYDROGENASE DEFICIENCY (E1)
  1. Pyruvate, Pyruvic acid
  2. Lactate
  3. Lactate/Pyruvate ratio
  4. Pyruvate dehydrogenase E1 complex
  5. early death
  6. muscle weakness
  7. tachypnea, hyperpnea, dyspnea, respiratory distress
  8. cardiomegaly
  9. growth retardation
  10. microcephaly
  11. mental retardation
  12. motor retardation
  13. cerebellar atrophy or hypoplasia
  14. onset, newborn
  15. onset, child
  16. basal ganglia, changes
  17. brain, cortical or paraventricular cysts
  18. cardiomyopathy
  19. ataxia
  20. dysmorphism
  21. hypotonia
  22. infantile spasms
  23. metabolic acidosis
  24. MRI, brain, abnormalities -
  25. lactic acidosis
  26. corpus callosum, agenesis/hypoplasia
  27. pH
  28. dystonia

D-GLYCERIC ACIDURA Last update 07.05.2016_10:53:58
D-GLYCERIC ACIDURA
  1. D-Glyceric acid
  2. Glycine
  3. tachypnea, hyperpnea, dyspnea, respiratory distress
  4. onset, newborn
  5. motor retardation
  6. mental retardation
  7. hypotonia
  8. seizures
  9. spastic diplegia/quadriplegia
  10. metabolic acidosis
  11. no clinical signs or symptoms
  12. Amino acids, plasma
  13. Organic acids, urine
  14. behavior, autism or autistic-like
  15. failure to thrive

PERSISTANT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY, PHHI Last update
PERSISTANT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY, PHHI
  1. Insulin/Glucose
  2. Glucose
  3. Insulin
  4. hyperinsulinism
  5. coma
  6. seizures
  7. onset, newborn
  8. increased weight for age, height and sex (>2 SD)
  9. increased body hair
  10. hypoglycemia
  11. Insulin-like growth factor binding protein-1 (IGFBP-1)
  12. Free fatty acids
  13. 3-Hydroxybutyric acid
  14. onset, infant

MOLYBDENIUM CO-FACTOR DEFICIENCY Last update 19.01.2016_21:00:54
MOLYBDENIUM CO-FACTOR DEFICIENCY
  1. Uric acid
  2. S-Sulfocysteine
  3. Taurine
  4. Cystine
  5. Sulfite oxidase
  6. Xanthine dehydrogenase
  7. Sulfate
  8. early death
  9. dislocated lens (ectopia lentis)
  10. microcephaly
  11. mental retardation
  12. seizures
  13. feeding difficulties, poor feeding
  14. onset, newborn
  15. onset, infant
  16. encephalopathy
  17. dysmorphism
  18. vomiting
  19. hypotonia
  20. spastic diplegia/quadriplegia
  21. opisthotonus
  22. cerebral atrophy
  23. nystagmus
  24. enophthalmus
  25. MRI, brain, abnormalities -
  26. EEG abnormalities -
  27. Amino acids, urine
  28. Amino acids, plasma
  29. Xanthine
  30. Hypoxanthine
  31. bleeding tendencies, hemorrhages
  32. lactic acidosis
  33. growth retardation

DIABETES MELLITUS (MODY), NON-INSULIN-DEPENDENT Last update
DIABETES MELLITUS (MODY), NON-INSULIN-DEPENDENT
  1. pH
  2. Insulin
  3. Glucose
  4. polyuria
  5. reducing substances, urine (Clinitest)
  6. polydipsia (increased drinking)
  7. Ketone bodies
  8. Glucose tolerance, impaired
  9. onset, adolescent
  10. onset, child
  11. ketosis
  12. hyperglycemia
  13. glucosuria

SUCRASE-ISOMALTASE DEFICIENCY Last update
SUCRASE-ISOMALTASE DEFICIENCY
  1. Isomaltase
  2. Sucrase
  3. failure to thrive
  4. dehydration
  5. diarrhea
  6. pain, abdominal
  7. onset, infant
  8. H2-excretion test
  9. Calcium
  10. nephrocalcinosis
  11. metabolic acidosis

SUCCINYL CoA: 3-KETOACID CoA TRANSFERASE DEFICIENCY Last update
SUCCINYL CoA: 3-KETOACID CoA TRANSFERASE DEFICIENCY
  1. 3-Hydroxybutyrate + Acetoacetate
  2. 3-Ketoacid CoA transferase
  3. 14C-Acetoacetate oxidation
  4. Ketone bodies
  5. early death
  6. tachypnea, hyperpnea, dyspnea, respiratory distress
  7. hypotonia
  8. coma
  9. metabolic acidosis
  10. ketosis
  11. lethargy, drowsiness, malaise or sleep disorder
  12. hypoglycemia
  13. onset, newborn
  14. onset, infant
  15. 3-Hydroxybutyric acid
  16. Acetoacetic acid

LEIGH`S SYNDROME, SUBACUTE NECROTIZING ENCEPHALOPATHY, SNE Last update 06.12.2015_18:23:20
LEIGH`S SYNDROME, SUBACUTE NECROTIZING ENCEPHALOPATHY, SNE
  1. Alanine
  2. Lactate
  3. nystagmus
  4. muscle weakness
  5. hypotonia
  6. motor retardation
  7. ataxia
  8. seizures
  9. tremor or twitching
  10. clumsiness, coordination defect or unsteadiness
  11. weight loss
  12. encephalopathy
  13. ophthalmoplegia
  14. optic atrophy
  15. onset, infant
  16. onset, child
  17. dystonia
  18. Cytochrome c oxidase
  19. Complex I activity
  20. CT, brain, abnormalities -
  21. MRI, brain, gray matter abnormalities -
  22. MRS, brain, basal ganglia, lactate -
  23. Amino acids, plasma
  24. Amino acids, urine
  25. lactic acidosis
  26. failure to thrive
  27. hearing defect, deafness
  28. apnea
  29. liver involvement (acute, chronic, hepatitis)
  30. Fumaric acid
  31. Succinate

2-HYDROXYGLUTARIC ACIDEMIA (L) Last update 07.12.2015_20:12:03
2-HYDROXYGLUTARIC ACIDEMIA (L)
  1. 2-Hydroxyglutaric acid (L)
  2. Lysine
  3. speech development, delayed, abnormal
  4. macrocephaly (large calvaria, >2 SD for age)
  5. mental retardation
  6. ataxia
  7. seizures
  8. tremor or twitching
  9. extrapyramidal signs
  10. pyramidal signs
  11. onset, newborn
  12. hyperpigmentation
  13. blindness, visual loss, visual impairment
  14. alopecia
  15. CT, brain, abnormalities -
  16. EEG abnormalities -
  17. MRI, brain, abnormalities -
  18. Organic acids, urine
  19. Protein, total, spinal fluid
  20. onset, infant
  21. dysarthria
  22. hypotonia
  23. hypertonia, spasticity
  24. behavior, autism or autistic-like
  25. early death
  26. hearing defect, deafness
  27. strabismus
  28. optic atrophy
  29. nystagmus
  30. cerebral neoplasm
  31. dystonia

REFSUM DISEASE Last update
REFSUM DISEASE
  1. Phytanic acid
  2. Phytanic acid oxidation
  3. Protein, total, spinal fluid
  4. nystagmus
  5. retinitis pigmentosa
  6. muscle weakness
  7. peripheral neuropathy
  8. ataxia
  9. cardiomyopathy
  10. ichthyosis
  11. anosmia
  12. skeletal changes
  13. neurological deterioration
  14. hearing defect, deafness
  15. night blindness
  16. cataract
  17. onset, adolescent
  18. onset, adult
  19. onset, child
  20. ECG abnormalities -
  21. Pristanic acid

INFANTILE REFSUMS DISEASE Last update
INFANTILE REFSUMS DISEASE
  1. Pipecolic acid
  2. C26:0
  3. Phytanic acid
  4. retinitis pigmentosa
  5. hearing defect, deafness
  6. flat facies (Potter facies)
  7. flattened nose
  8. mental retardation
  9. defect of deep tendon reflexes
  10. peripheral neuropathy
  11. osteoporosis
  12. MRI, brain, abnormalities -
  13. neurological deterioration
  14. dysmorphism
  15. anosmia
  16. Phytanic acid oxidation
  17. Plasmalogens, biosynthesis
  18. Dihydroxyacetone-phosphate acyltransferase (DHAPAT)
  19. Alkyl-dihydroxyacetone-phosphate synthase
  20. Very-long-chain fatty acid oxidation
  21. Peroxisomal Acyl-CoA oxidase
  22. Peroxisomal 3-oxoacyl-CoA thiolase
  23. Peroxisomal bifunctional enzyme
  24. Very-long-chain fatty acids

DIABETES, FETAL EFFECTS FROM MATERNAL Last update
DIABETES, FETAL EFFECTS FROM MATERNAL
  1. Glucose
  2. birthweight high (large for gestational age)
  3. congenital heart defect
  4. tachypnea, hyperpnea, dyspnea, respiratory distress
  5. respiratory distress
  6. exposure to insulin during gestation
  7. prematurity
  8. cardiomyopathy
  9. cardiomegaly
  10. jaundice
  11. macrosomia
  12. hypoglycemia
  13. hypocalcemia
  14. polycythemia
  15. hyperbilirubinemia
  16. congenital malformation
  17. intracranial hemorrhage

PHENYLKETONURIA, FETAL EFFECTS FROM MATERNAL (MPKU) Last update 06.12.2015_17:52:52
PHENYLKETONURIA, FETAL EFFECTS FROM MATERNAL (MPKU)
  1. Phenylalanine
  2. no specific laboratory findings
  3. birthweight low (small for gestational age)
  4. congenital heart defect
  5. short philtrum
  6. microcephaly
  7. hypertonia, spasticity
  8. mental retardation
  9. growth retardation
  10. exposure to phenylalanine during gestation
  11. epicanthus or medial eyelid fold

FOLATE MALABSORPTION Last update 22.09.2009_16:23:55
FOLATE MALABSORPTION
  1. Folate
  2. Hemoglobine
  3. Orotic acid
  4. Immunoglobulines
  5. Sarcosine
  6. mental retardation
  7. seizures
  8. ataxia
  9. athetosis
  10. peripheral neuropathy
  11. stomatitis
  12. onset, infant
  13. infections (severe or recurrent)
  14. failure to thrive
  15. diarrhea
  16. cerebral calcifications
  17. progressive neurologic defect
  18. anemia
  19. MRI, brain, abnormalities -

HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B Last update
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B
  1. Cholesterol
  2. xanthoma
  3. corneal arcus
  4. coronary heart disease
  5. Low-density lipoprotein (LDL)

FRUCTOSE-1,6-DIPHOSPHATASE DEFICIENCY Last update 22.09.2009_16:27:46
FRUCTOSE-1,6-DIPHOSPHATASE DEFICIENCY
  1. 3-Hydroxybutyric acid
  2. Lactate
  3. Glucose
  4. Ketone bodies
  5. Uric acid
  6. Alanine
  7. Fructose 1,6 biphosphatase
  8. early death
  9. cataract
  10. large liver
  11. tachypnea, hyperpnea, dyspnea, respiratory distress
  12. hypotonia
  13. coma
  14. seizures
  15. onset, newborn
  16. onset, infant
  17. irritability
  18. vomiting
  19. cardiac arrest
  20. hematemesis
  21. metabolic acidosis
  22. pH
  23. EEG abnormalities -
  24. hypoglycemia
  25. ketosis
  26. lactic acidosis
  27. Glycerol

FRUCTOSE INTOLERANCE, HEREDITARY Last update 09.07.2013_10:16:10
FRUCTOSE INTOLERANCE, HEREDITARY
  1. Glucose
  2. Fructose 1,6-biphosphate aldolase
  3. Phosphorus, inorganic
  4. Magnesium
  5. Lactate
  6. Fructose
  7. prominent abdomen
  8. large liver
  9. jaundice
  10. coma
  11. sweating
  12. seizures
  13. lethargy, drowsiness, malaise or sleep disorder
  14. feeding difficulties, poor feeding
  15. vomiting
  16. nausea
  17. cirrhosis or fibrosis of liver
  18. failure to thrive
  19. reducing substances, urine (Clinitest)
  20. tubulopathy
  21. bleeding tendencies, hemorrhages
  22. liver failure
  23. thrombopenia, thrombocytopenia
  24. Transaminases
  25. metabolic acidosis
  26. Coagulopathy/Coagulation factors
  27. Amino acids, urine
  28. hypoglycemia
  29. lactic acidosis
  30. Uric acid

FRUCTOSURIA Last update
FRUCTOSURIA
  1. Fructose
  2. Fructokinase
  3. reducing substances, urine (Clinitest)
  4. no clinical signs or symptoms

FUCOSIDOSIS Last update 22.09.2009_16:29:12
FUCOSIDOSIS
  1. alpha-L-Fucosidase
  2. Oligosaccharides
  3. Fucoglycopeptides
  4. Chloride
  5. Sodium
  6. cardiomyopathy
  7. onset, child
  8. skin, thickened
  9. cardiomegaly
  10. mental retardation
  11. hypertonia, spasticity
  12. contractures, joints
  13. peripheral neuropathy
  14. macrocephaly (large calvaria, >2 SD for age)
  15. dehydration
  16. infections (severe or recurrent)
  17. coarse facial features
  18. growth retardation
  19. kyphoskoliosis
  20. dysostosis multiplex
  21. angiokeratoma
  22. seizures
  23. hearing defect, deafness
  24. hernia
  25. neurological deterioration
  26. corneal clouding
  27. teleangiectasia
  28. CT, brain, abnormalities -
  29. MRI, brain, abnormalities -
  30. Lymphocytes, vacuoles
  31. Chitotriosidase

ETHANOLAMINOSIS Last update
ETHANOLAMINOSIS
  1. Ethanolamine
  2. cardiomegaly
  3. hypotonia
  4. motor retardation
  5. early death
  6. Organic acids, urine

HYPERPHENYLALANINEMIA DUE TO DHPR-DEFICIENCY Last update 03.12.2015_12:44:16
HYPERPHENYLALANINEMIA DUE TO DHPR-DEFICIENCY
  1. Phenylalanine
  2. Dihydropteridin reductase
  3. Biopterin
  4. Neopterin
  5. % Biopterin
  6. 5-Hydroxyindolacetic acid
  7. Homovanillic acid
  8. progressive neurologic defect
  9. mental retardation
  10. seizures
  11. hypotonia
  12. hypertonia, spasticity
  13. neurological deterioration
  14. microcephaly
  15. hyperthermia
  16. hypersalivation
  17. chorea or athetosis
  18. lethargy, drowsiness, malaise or sleep disorder
  19. irritability
  20. Amino acids, plasma
  21. EEG abnormalities -
  22. MRI, brain, abnormalities -
  23. CT, brain, abnormalities -
  24. pneumonia
  25. early death
  26. skin rushes
  27. pigmentation, skin and sclera
  28. temperature instability
  29. Tetrahydrobiopterin (BH4) loading test

GALACTOSEMIA II (GALK) Last update 05.01.2016_18:57:22
GALACTOSEMIA II (GALK)
  1. Galactokinase
  2. Galactose
  3. cataract
  4. reducing substances, urine (Clinitest)
  5. mental retardation
  6. pseudotumor cerebri
  7. onset, infant
  8. Galactitol

PHENYLKETONURIA (PKU) Last update 06.12.2015_17:56:49
PHENYLKETONURIA (PKU)
  1. Phenylpyruvic acid
  2. Phenyllactic acid
  3. 2-Hydroxyphenylacetic acid
  4. Phenylalanine
  5. 4-Hydroxyphenyllactic acid
  6. mousy body odor
  7. microcephaly
  8. hypertonia, spasticity
  9. mental retardation
  10. seizures
  11. vomiting
  12. onset, child
  13. seborrhoic skin rush
  14. blue eyes
  15. fair (white) hair
  16. Amino acids, plasma
  17. EEG abnormalities -
  18. MRI, brain, white matter abnormalities -
  19. Organic acids, urine
  20. Ferric chloride reaction
  21. Phenylalanine/Tyrosine
  22. pigmentation, skin and sclera
  23. behavior, hyperactive, restless
  24. Tyrosine
  25. Phenylacetic acid
  26. N-Acetylphenylalanine
  27. irritability
  28. onset, newborn
  29. birthweight low (small for gestational age)
  30. 5-Hydroxyindolacetic acid
  31. Homovanillic acid
  32. embryopathy

GALACTOSEMIA Last update 05.01.2016_19:15:43
GALACTOSEMIA
  1. Hemoglobine
  2. Bilirubin
  3. Galactose-1-phosphate
  4. Glucose
  5. Transaminases
  6. Galactose
  7. Chloride
  8. Galactose-1-phosphate uridyltransferase
  9. Galactitol
  10. cataract
  11. ascites
  12. large liver
  13. jaundice
  14. mental retardation
  15. liver failure
  16. seizures
  17. lethargy, drowsiness, malaise or sleep disorder
  18. vomiting
  19. cholestasis
  20. cirrhosis or fibrosis of liver
  21. gallstones, cholelithiasis
  22. large spleen
  23. onset, newborn
  24. reducing substances, urine (Clinitest)
  25. tubulopathy
  26. weight loss
  27. anorexia
  28. failure to thrive
  29. diarrhea
  30. sepsis (E.coli)
  31. cerebral edema
  32. metabolic acidosis
  33. Amino acids, urine
  34. Protein
  35. anemia
  36. hypoglycemia
  37. feeding difficulties, poor feeding
  38. encephalopathy
  39. Coagulopathy/Coagulation factors
  40. D-Galactonic acid
  41. D-Sorbitol

FABRY DISEASE Last update 22.09.2009_16:04:01
FABRY DISEASE
  1. alpha-Galactosidase A
  2. Globotriaosylceramide
  3. angiokeratoma
  4. paresthesia
  5. hypohidrosis
  6. corneal deposits
  7. renal failure, acute/chronic
  8. coronary heart disease
  9. onset, child
  10. fever
  11. nausea
  12. vomiting
  13. diarrhea
  14. pain, abdominal
  15. hypertension
  16. myocardial infarction
  17. cerebral vascular disease
  18. corneal clouding
  19. anemia
  20. ECG abnormalities -
  21. Protein
  22. cardiomyopathy
  23. vertigo, dizziness
  24. hyperhidrosis

PYRUVATE KINASE DEFICIENCY Last update
PYRUVATE KINASE DEFICIENCY
  1. Pyruvate kinase
  2. jaundice
  3. gallstones, cholelithiasis
  4. large spleen
  5. onset, newborn
  6. onset, infant
  7. hydrops fetalis
  8. Retikulocytes
  9. Bilirubin
  10. anemia
  11. Thrombocytes, Platelets
  12. cirrhosis or fibrosis of liver

GALACTOSEMIA III Last update 05.01.2016_19:07:41
GALACTOSEMIA III
  1. Uridine diphosphate galactose-4-epimerase
  2. Galactose-1-phosphate
  3. no clinical signs or symptoms
  4. mental retardation
  5. motor retardation
  6. vomiting
  7. failure to thrive
  8. large liver
  9. jaundice
  10. Galactose
  11. Amino acids, urine
  12. hearing defect, deafness
  13. large spleen
  14. hypotonia
  15. speech development, delayed, abnormal
  16. aminoaciduria, generalized

GALACTOSIALIDOSIS Last update 22.09.2009_16:41:54
GALACTOSIALIDOSIS
  1. beta-Galactosidase
  2. Neuraminidase
  3. Sialyloligosaccharides
  4. onset, newborn
  5. edema
  6. ascites
  7. skeletal changes
  8. onset, infant
  9. large liver
  10. large spleen
  11. cherry-red spot on retinal macula
  12. mental retardation
  13. onset, adolescent
  14. dysmorphism
  15. corneal deposits
  16. cardiomyopathy
  17. hemangioma
  18. hydrops fetalis
  19. inguinal hernia
  20. joint stiffness
  21. coarse facial features
  22. macrocephaly (large calvaria, >2 SD for age)
  23. corneal clouding
  24. angiokeratoma
  25. hearing defect, deafness
  26. ataxia
  27. myoclonus
  28. seizures
  29. growth retardation
  30. heart involvement
  31. blindness, visual loss, visual impairment
  32. dysostosis multiplex
  33. Protein
  34. Lymphocytes, vacuoles
  35. Oligosaccharides
  36. Chitotriosidase

NEWBORNS, PREMATURE INFANTS, TRANSIENT IMMATURITY OF TRANSPORT SYSTEMS OR ENZYMES Last update
NEWBORNS, PREMATURE INFANTS, TRANSIENT IMMATURITY OF TRANSPORT SYSTEMS OR ENZYMES
  1. 2-Oxoglutaric acid
  2. Glycine
  3. Amino acids, urine
  4. Organic acids, urine
  5. 5-Oxoproline

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE Last update 15.05.2016_17:03:52
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE
  1. Hemoglobine
  2. Homocysteine
  3. Methylmalonic acid
  4. early death
  5. hypotonia
  6. mental retardation
  7. seizures
  8. glossitis
  9. feeding difficulties, poor feeding
  10. stomatitis
  11. hemolysis
  12. lethargy, drowsiness, malaise or sleep disorder
  13. failure to thrive
  14. Organic acids, urine
  15. Amino acids, plasma
  16. anemia
  17. thrombopenia, thrombocytopenia
  18. psychosis
  19. hematuria
  20. Protein
  21. heart involvement
  22. Methionine
  23. metabolic acidosis
  24. onset, infant
  25. onset, adult
  26. onset, child
  27. retinal or macular degeneration
  28. neutropenia (decreased neutrophils)
  29. nystagmus
  30. thromboembolism
  31. microcephaly
  32. Hemolytic-uremic-syndrome

G(M1)-GANGLIOSIDOSIS, TYPE 1. PSEUDO-HURLER-DISEASE Last update
G(M1)-GANGLIOSIDOSIS, TYPE 1. PSEUDO-HURLER-DISEASE
  1. beta-Galactosidase
  2. cherry-red spot on retinal macula
  3. mental retardation
  4. large liver
  5. large spleen
  6. flattened nose
  7. broad forehead (wide)
  8. X-ray, abnormalities
  9. growth retardation
  10. progressive neurologic defect
  11. infections (severe or recurrent)
  12. seizures
  13. onset, infant
  14. early death
  15. cardiomegaly
  16. hydrops fetalis
  17. angiokeratoma
  18. teleangiectasia
  19. corneal deposits
  20. skin, thickened
  21. frontal bossing
  22. low set ears
  23. gingiva, hyperplastic
  24. macroglossia, large/protuding tongue
  25. kyphoskoliosis
  26. cerebral atrophy
  27. optic atrophy
  28. corneal clouding
  29. dysmorphism
  30. Oligosaccharides
  31. GM1-ganglioside
  32. Lymphocytes, vacuoles
  33. CT, brain, abnormalities -
  34. Foam cells, bone marrow
  35. MRI, brain, abnormalities -
  36. skin, abnormal
  37. D-Galactonic acid

G(M1)-GANGLIOSIDOSIS, TYPE 2. LIPIDOSIS, LATE INFANTILE SYSTEMIC Last update
G(M1)-GANGLIOSIDOSIS, TYPE 2. LIPIDOSIS, LATE INFANTILE SYSTEMIC
  1. beta-Galactosidase
  2. progressive neurologic defect
  3. mental retardation
  4. motor retardation
  5. ataxia
  6. muscular rigidity
  7. seizures
  8. early death
  9. onset, child
  10. infections (severe or recurrent)
  11. myoclonus
  12. feeding difficulties, poor feeding
  13. pyramidal signs
  14. spastic diplegia/quadriplegia
  15. cherry-red spot on retinal macula
  16. cerebral atrophy
  17. X-ray, abnormalities
  18. hyperacusis
  19. Oligosaccharides
  20. GM1-ganglioside
  21. neutropenia (decreased neutrophils)
  22. Lymphocytes, vacuoles
  23. Foam cells, bone marrow
  24. CT, brain, abnormalities -
  25. MRI, brain, abnormalities -

G(M1)-GANGLIOSIDOSIS, TYPE 3. CHRONIC/ADULT TYPE Last update
G(M1)-GANGLIOSIDOSIS, TYPE 3. CHRONIC/ADULT TYPE
  1. beta-Galactosidase
  2. ataxia
  3. dysarthria
  4. mental retardation
  5. onset, child
  6. onset, adult
  7. corneal deposits
  8. dysmorphism
  9. dystonia
  10. grimacing
  11. Lymphocytes, vacuoles
  12. MRI, brain, abnormalities -
  13. Parkinsonism

G(M2)-GANGLIOSIDOSIS: VARIANT 0, SANDHOFF DISEASE Last update
G(M2)-GANGLIOSIDOSIS: VARIANT 0, SANDHOFF DISEASE
  1. beta-Hexosaminidase
  2. cherry-red spot on retinal macula
  3. mental retardation
  4. hypotonia
  5. seizures
  6. blindness, visual loss, visual impairment
  7. spastic diplegia/quadriplegia
  8. large liver
  9. early death
  10. onset, infant
  11. onset, child
  12. onset, adult
  13. dysostosis multiplex
  14. macrocephaly (large calvaria, >2 SD for age)
  15. Oligosaccharides
  16. CT, brain, abnormalities -
  17. ataxia
  18. cerebellar atrophy or hypoplasia
  19. MRI, brain, abnormalities -

G(M2)-GANGLIOSIDOSIS: GM2 ACTIVATOR DEFICIENCY Last update
G(M2)-GANGLIOSIDOSIS: GM2 ACTIVATOR DEFICIENCY
  1. GM2 activator protein
  2. cherry-red spot on retinal macula
  3. mental retardation
  4. progressive neurologic defect
  5. hypotonia
  6. blindness, visual loss, visual impairment
  7. seizures
  8. macrocephaly (large calvaria, >2 SD for age)
  9. early death
  10. onset, infant
  11. lethargy, drowsiness, malaise or sleep disorder
  12. EEG abnormalities -
  13. 5-Oxoproline

GAUCHER DISEASE TYPE I Last update
GAUCHER DISEASE TYPE I
  1. Glucocerebrosidase
  2. cirrhosis or fibrosis of liver
  3. large spleen
  4. arthritis
  5. onset, child
  6. large liver
  7. pigmentation, skin and sclera
  8. bone fractures
  9. onset, adult
  10. skeletal changes
  11. growth retardation
  12. pain, bones
  13. respiratory insufficiency
  14. neurological deterioration
  15. anemia
  16. thrombopenia, thrombocytopenia
  17. Gaucher cells, bone marrow, spleen
  18. bleeding time
  19. DNA
  20. beta-Glucosidase
  21. neutropenia (decreased neutrophils)
  22. bleeding tendencies, hemorrhages

GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY Last update 22.09.2009_16:54:44
GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY
  1. Bilirubin
  2. Hemoglobine
  3. Retikulocytes
  4. jaundice
  5. pain, abdominal
  6. large spleen
  7. gallstones, cholelithiasis
  8. infections (severe or recurrent)
  9. no clinical signs or symptoms
  10. hydrops fetalis
  11. anemia

GLUCOSE-GALACTOSE MALABSORPTION Last update
GLUCOSE-GALACTOSE MALABSORPTION
  1. Glucose
  2. diarrhea
  3. dehydration
  4. onset, newborn
  5. breath hydrogen test
  6. Galactose
  7. glucosuria
  8. failure to thrive
  9. nephrocalcinosis

REYE SYNDROME LIKE MANIFESTATIONS Last update 09.08.2009_15:05:55
REYE SYNDROME LIKE MANIFESTATIONS
  1. vomiting
  2. feeding difficulties, poor feeding
  3. large liver
  4. lethargy, drowsiness, malaise or sleep disorder
  5. coma
  6. encephalopathy
  7. Glucose
  8. metabolic acidosis
  9. Transaminases
  10. Ammonia
  11. hypoglycemia
  12. hyperammonemia
  13. early death
  14. hypotonia

METHYLMALONIC ACIDURIA, ISOLATED, BENIGN (BACTERIAL OVERGROWTH?) Last update
METHYLMALONIC ACIDURIA, ISOLATED, BENIGN (BACTERIAL OVERGROWTH?)
  1. Methylmalonic acid
  2. increased weight for age, height and sex (>2 SD)
  3. speech development, delayed, abnormal
  4. mental retardation
  5. tall stature

GLYCEROL INTOLERANCE SYNDROM Last update
GLYCEROL INTOLERANCE SYNDROM
  1. Phosphorus, inorganic
  2. Uric acid
  3. Glucose
  4. Ketone bodies
  5. Fructose 1,6 biphosphatase
  6. shortened gestation time
  7. seizures
  8. lethargy, drowsiness, malaise or sleep disorder
  9. vomiting
  10. nausea
  11. diarrhea
  12. onset, newborn
  13. onset, child
  14. prematurity
  15. pallor
  16. sweating
  17. hypoglycemia
  18. ketosis

GLYCEROL KINASE DEFICIENCY Last update 22.09.2009_16:57:49
GLYCEROL KINASE DEFICIENCY
  1. Glycerol
  2. Glucose
  3. pH
  4. adrenal insufficiency
  5. myopathy
  6. vomiting
  7. defect of adrenal gland or function
  8. Organic acids, urine
  9. strabismus
  10. lethargy, drowsiness, malaise or sleep disorder
  11. fever
  12. hypothermia
  13. dysmorphism
  14. growth retardation
  15. osteoporosis
  16. failure to thrive
  17. cryptorchism
  18. obstructive airway disease
  19. Pseudohypertriglyceridemia
  20. metabolic acidosis
  21. EEG abnormalities -
  22. hypoglycemia
  23. muscle weakness
  24. Creatinine kinase
  25. onset, newborn
  26. onset, infant
  27. onset, child
  28. onset, adolescent
  29. no clinical signs or symptoms

NEONATAL HEMOCHROMATOSIS Last update
NEONATAL HEMOCHROMATOSIS
  1. Hemoglobine
  2. Ferritin
  3. Glucose
  4. Iron
  5. Protein, total, serum
  6. ascites
  7. hydrops fetalis
  8. liver failure
  9. liver involvement (acute, chronic, hepatitis)
  10. onset, fetus
  11. onset, infant
  12. birthweight low (small for gestational age)
  13. pleural effusions
  14. cholestasis
  15. encephalopathy
  16. cirrhosis or fibrosis of liver
  17. early death
  18. anemia
  19. Coagulopathy/Coagulation factors
  20. MRI, liver, abnormalities -
  21. thrombopenia, thrombocytopenia
  22. jaundice
  23. Albumin
  24. oligohydramnion (maternal)
  25. polyhydramnion (maternal)
  26. hypoglycemia
  27. bleeding tendencies, hemorrhages
  28. onset, newborn

GLYCOGENOSIS, TYPE IA. VON GIERKE DISEASE Last update
GLYCOGENOSIS, TYPE IA. VON GIERKE DISEASE
  1. Uric acid
  2. Lactate
  3. Glucose 6-phosphatase
  4. Cholesterol
  5. Triglycerides
  6. Transaminases
  7. Glucose
  8. Ketone bodies
  9. Protein
  10. nose bleed
  11. early death
  12. xanthoma
  13. large liver
  14. short stature
  15. microcephaly
  16. hypotonia
  17. seizures
  18. gout
  19. hepatoma
  20. metabolic acidosis
  21. onset, newborn
  22. onset, infant
  23. onset, child
  24. large kidneys
  25. micropenis
  26. Fanconi syndrome
  27. pancreatitis
  28. facies, cherubic (dolls face)
  29. prominent abdomen
  30. diarrhea
  31. thrombopenia, thrombocytopenia
  32. bleeding time
  33. hypoglycemia
  34. ketosis
  35. lactic acidosis
  36. bleeding tendencies, hemorrhages

GLYCOGENOSIS, TYPE IB Last update
GLYCOGENOSIS, TYPE IB
  1. Uric acid
  2. Cholesterol
  3. Glucose
  4. Ketone bodies
  5. Lactate
  6. Transaminases
  7. Triglycerides
  8. nose bleed
  9. early death
  10. xanthoma
  11. large liver
  12. short stature
  13. hypotonia
  14. seizures
  15. gout
  16. hepatoma
  17. onset, newborn
  18. onset, infant
  19. infections (local, abscesses)
  20. thrombopenia, thrombocytopenia
  21. bleeding time
  22. neutropenia (decreased neutrophils)
  23. hypoglycemia
  24. ketosis
  25. lactic acidosis
  26. bleeding tendencies, hemorrhages

GLYCOGENOSIS, TYPE IC Last update
GLYCOGENOSIS, TYPE IC
  1. Uric acid
  2. Glucose
  3. Ketone bodies
  4. Lactate
  5. Transaminases
  6. Triglycerides
  7. nose bleed
  8. xanthoma
  9. large liver
  10. growth retardation
  11. hypotonia
  12. motor retardation
  13. seizures
  14. thrombopenia, thrombocytopenia
  15. bleeding time
  16. Cholesterol
  17. hypoglycemia
  18. ketosis
  19. lactic acidosis

GLYCOGENOSIS, TYPE II. INFANTILE ONSET. POMPE DISEASE Last update
GLYCOGENOSIS, TYPE II. INFANTILE ONSET. POMPE DISEASE
  1. Oligosaccharides
  2. alpha-Glucosidase
  3. early death
  4. large liver
  5. macroglossia, large/protuding tongue
  6. cardiomegaly
  7. progressive muscle defect
  8. hypotonia
  9. onset, newborn
  10. onset, infant
  11. cardiomyopathy
  12. hydrops fetalis
  13. respiratory insufficiency
  14. feeding difficulties, poor feeding
  15. onset, child
  16. muscle weakness
  17. infections (severe or recurrent)
  18. myopathy
  19. ECG abnormalities -
  20. alpha-1,4-Glucosidase
  21. Lymphocytes, vacuoles

GLYCOGENOSIS, TYPE II. JUVENILE ONSET Last update
GLYCOGENOSIS, TYPE II. JUVENILE ONSET
  1. alpha-Glucosidase
  2. large liver
  3. onset, child
  4. cardiomyopathy
  5. progressive muscle defect
  6. hypotonia
  7. onset, adult
  8. respiratory insufficiency
  9. pneumonia
  10. lordosis
  11. onset, infant
  12. alpha-1,4-Glucosidase

GLYCOGENOSIS, TYPE II. ADULT ONSET Last update
GLYCOGENOSIS, TYPE II. ADULT ONSET
  1. alpha-Glucosidase
  2. fatigue, severe or unusual
  3. headache (severe, recurrent or occipital, migraine)
  4. respiratory insufficiency
  5. progressive muscle defect
  6. orthopnea
  7. onset, adult
  8. alpha-1,4-Glucosidase

GLYCOGENOSIS, TYPE IIB WITHOUT alpha-GLUCOSIDASE DEFICIENCY Last update 24.01.2016_16:50:01
GLYCOGENOSIS, TYPE IIB WITHOUT alpha-GLUCOSIDASE DEFICIENCY
  1. Creatinine kinase
  2. tachykardia, paroxysmal
  3. tachypnea, hyperpnea, dyspnea, respiratory distress
  4. cardiomegaly
  5. cardiac arrhythmia, dysrhythmia
  6. onset, child
  7. onset, adult
  8. cardiomyopathy
  9. mental retardation
  10. ECG abnormalities -
  11. muscle weakness
  12. exercise intolerance
  13. myopathy
  14. heart failure

GLYCOGENOSIS, TYPE III. CORI DISEASE, DEBRANCHER GLYCOGENOSIS Last update
GLYCOGENOSIS, TYPE III. CORI DISEASE, DEBRANCHER GLYCOGENOSIS
  1. Cholesterol
  2. Creatinine kinase
  3. Transaminases
  4. Glucose
  5. Ketone bodies
  6. Triglycerides
  7. Amylo-1,6-glucosidase
  8. muscle weakness
  9. large liver
  10. short stature
  11. progressive muscle defect
  12. ECG abnormalities -
  13. EMG abnormalities -
  14. onset, infant
  15. onset, child
  16. cardiomyopathy
  17. myopathy
  18. hypoglycemia
  19. ketosis

GLYCOGENOSIS, TYPE IV. AMYLOPECTINOSIS, ANDERSON DISEASE Last update
GLYCOGENOSIS, TYPE IV. AMYLOPECTINOSIS, ANDERSON DISEASE
  1. Transaminases
  2. alpha-1,4 Glucan-6-alpha-glucosyltransferase
  3. Glucose
  4. early death
  5. ascites
  6. large liver
  7. jaundice
  8. cardiomegaly
  9. hypotonia
  10. diarrhea
  11. cirrhosis or fibrosis of liver
  12. onset, infant
  13. limb abnormalities, limb deformities
  14. lung hypoplasia
  15. fetal akinesia/hypokinesia sequence
  16. onset, newborn
  17. onset, fetus
  18. liver failure
  19. failure to thrive
  20. cardiomyopathy
  21. onset, child
  22. liver involvement (acute, chronic, hepatitis)
  23. myopathy
  24. hypoglycemia
  25. Chitotriosidase

GLYCOGENOSIS, TYPE V. McARDLE DISEASE Last update
GLYCOGENOSIS, TYPE V. McARDLE DISEASE
  1. Myoglobin
  2. Creatinine kinase
  3. Muscle glycogen phosphorylase
  4. muscle weakness
  5. muscle swelling
  6. exercise intolerance
  7. decreased muscle volume, atrophy or hypoplasia
  8. muscular rigidity
  9. onset, child
  10. pain, muscle
  11. onset, adolescent
  12. brown colored urine
  13. MRI, muscle, abnormalities -
  14. rhabdomyolysis

GLYCOGENOSIS, TYPE VI. HERS DISEASE Last update
GLYCOGENOSIS, TYPE VI. HERS DISEASE
  1. Uric acid
  2. Cholesterol
  3. Glucose
  4. Lactate
  5. Transaminases
  6. Triglycerides
  7. Liver phosphorylase
  8. Phosphorylase kinase
  9. large liver
  10. growth retardation
  11. hypotonia
  12. facies, cherubic (dolls face)
  13. onset, newborn
  14. onset, infant
  15. onset, child
  16. Ketone bodies
  17. prominent abdomen
  18. hypoglycemia
  19. ketosis

GLYCOGENOSIS, TYPE VII. TARUI DISEASE Last update
GLYCOGENOSIS, TYPE VII. TARUI DISEASE
  1. Muscle phosphofructokinase
  2. Phosphofructokinase
  3. Myoglobin
  4. Bilirubin
  5. Retikulocytes
  6. Uric acid
  7. 2-Diphosphoglycerate
  8. myopathy
  9. muscle weakness
  10. contractures, joints
  11. onset, fetus
  12. exercise intolerance
  13. jaundice
  14. fetal akinesia/hypokinesia sequence
  15. hemolysis
  16. onset, child
  17. gallstones, cholelithiasis
  18. muscle cramps
  19. pain, muscle
  20. lung hypoplasia
  21. brown colored urine
  22. Creatinine kinase
  23. ECG abnormalities -
  24. rhabdomyolysis
  25. renal failure, acute/chronic

GLYCOGENOSIS, TYPE VIII Last update
GLYCOGENOSIS, TYPE VIII
  1. Myoglobin
  2. Creatinine kinase
  3. fatigue, severe or unusual
  4. muscle weakness
  5. pain, muscle
  6. onset, adult
  7. brown colored urine
  8. rhabdomyolysis

GLYCOGENOSIS, TYPE IXA Last update
GLYCOGENOSIS, TYPE IXA
  1. Ketone bodies
  2. Phosphorylase kinase
  3. Triglycerides
  4. Cholesterol
  5. Transaminases
  6. Uric acid
  7. large liver
  8. growth retardation
  9. onset, infant
  10. prominent abdomen
  11. ketosis

GLYCOGENOSIS, TYPE IXB Last update
GLYCOGENOSIS, TYPE IXB
  1. Phosphorylase kinase
  2. Cholesterol
  3. Triglycerides
  4. Transaminases
  5. large liver
  6. growth retardation
  7. facies, cherubic (dolls face)
  8. onset, infant
  9. no clinical signs or symptoms

GLYCOGENOSIS, TYPE IXC Last update
GLYCOGENOSIS, TYPE IXC
  1. Phosphorylase kinase
  2. Creatinine kinase
  3. cardiomegaly
  4. onset, newborn
  5. early death
  6. ECG abnormalities -

GLYCOGEN SYNTHETASE DEFICIENCY Last update
GLYCOGEN SYNTHETASE DEFICIENCY
  1. Glycogen synthase
  2. Glucose
  3. Ketone bodies
  4. Lactate
  5. birthweight low (small for gestational age)
  6. growth retardation
  7. microcephaly
  8. mental retardation
  9. sweating
  10. seizures
  11. lethargy, drowsiness, malaise or sleep disorder
  12. onset, newborn
  13. onset, infant
  14. hypoglycemia
  15. ketosis

RENAL GLYCOSURIA Last update
RENAL GLYCOSURIA
  1. Glucose
  2. no clinical signs or symptoms
  3. glucosuria

HYPERORNITHINEMIA WITH GYRATE ATROPHY (HOGA) Last update
HYPERORNITHINEMIA WITH GYRATE ATROPHY (HOGA)
  1. Ornithine
  2. Glutamine
  3. Glutamic acid, Glutamate
  4. Lysine
  5. Ornithine-delta-aminotransferase
  6. 2-Aminopiperid-2-one
  7. Arginine
  8. retinitis pigmentosa
  9. cataract
  10. muscle weakness
  11. onset, child
  12. onset, adolescent
  13. blindness, visual loss, visual impairment
  14. myopia
  15. night blindness
  16. alopecia
  17. MRI, muscle, abnormalities -
  18. muscle, biopsy, abnormal
  19. EEG abnormalities -
  20. EMG abnormalities -
  21. chorioretinitis

HARTNUP DISEASE Last update
HARTNUP DISEASE
  1. Tryptophan
  2. Indole-3-acetic acid
  3. Alanine
  4. Serine
  5. Threonine
  6. Valine
  7. Leucine
  8. Isoleucine
  9. Phenylalanine
  10. Tyrosine
  11. Histidine
  12. Asparagine
  13. no clinical signs or symptoms
  14. mental retardation
  15. psychosis
  16. pellagra
  17. photophobia or photosensitive defect in light-exposed area
  18. ataxia
  19. behavior, abnormal or bizarre, confusion
  20. glossitis
  21. short stature
  22. diarrhea
  23. EEG abnormalities -
  24. CT, brain, abnormalities -
  25. Amino acids, urine
  26. Glutamine

HAWKINSINURIA Last update 02.12.2015_14:12:40
HAWKINSINURIA
  1. 4-Hydroxycyclohexylacetic acid
  2. Hawkinsin
  3. 5-Oxoproline
  4. 4-Hydroxyphenyllactic acid
  5. 4-Hydroxyphenylpyruvic acid
  6. Tyrosine
  7. pH
  8. Bicarbonate
  9. no clinical signs or symptoms
  10. mental retardation
  11. failure to thrive
  12. swimming pool odor
  13. metabolic acidosis
  14. ketosis
  15. 4-Hydroxyphenylacetic acid

GLUCOGLYCINURIA Last update
GLUCOGLYCINURIA
  1. Glycine
  2. Glucose
  3. no clinical signs or symptoms
  4. Amino acids, urine
  5. glucosuria

WILSON DISEASE Last update 06.12.2015_17:03:02
WILSON DISEASE
  1. Ceruloplasmin
  2. Copper
  3. Hemoglobine
  4. Bilirubin
  5. Transaminases
  6. dysarthria
  7. ataxia
  8. tremor or twitching
  9. cataract
  10. corneal deposits
  11. progressive neurologic defect
  12. liver involvement (acute, chronic, hepatitis)
  13. onset, child
  14. rickets
  15. osteoporosis
  16. pseudobulbar palsy
  17. vomiting
  18. hypoparathyreoidism
  19. cardiomyopathy
  20. pancreatitis
  21. Kayser-Fleischer Ring
  22. Fanconi syndrome
  23. cirrhosis or fibrosis of liver
  24. tubulopathy
  25. liver failure
  26. onset, adolescent
  27. onset, adult
  28. dysphagia
  29. behavior, abnormal or bizarre, confusion
  30. dyskinesia
  31. hemolysis
  32. anemia
  33. Coagulopathy/Coagulation factors
  34. bleeding tendencies, hemorrhages
  35. night blindness
  36. heart involvement
  37. hemiparesis/hemiparetic cerebral palsy
  38. encephalopathy
  39. Protein
  40. proteinuria

CHONDRODYSTROPHIA CALCIFICANS CONGENITA Last update 09.05.2016_19:53:33
CHONDRODYSTROPHIA CALCIFICANS CONGENITA
  1. Phytanic acid
  2. Dihydroxyacetone-phosphate acyltransferase (DHAPAT)
  3. Alkyl-dihydroxyacetone-phosphate synthase
  4. mental retardation
  5. spastic diplegia/quadriplegia
  6. short stature
  7. ichthyosis
  8. dysmorphism
  9. alopecia
  10. humeri, shortened
  11. femora, shortened
  12. skeletal changes
  13. lymyphedema
  14. contractures, joints
  15. X-ray, abnormalities
  16. limb abnormalities, limb deformities
  17. microcephaly
  18. cataract
  19. congenital heart defect
  20. optic atrophy
  21. infections (severe or recurrent)
  22. seizures
  23. punctate calcifications
  24. Plasmalogens, biosynthesis
  25. Phytanic acid oxidation

PENTOSURIA. ESSENTIAL BENIGN PENTOSURIA Last update
PENTOSURIA. ESSENTIAL BENIGN PENTOSURIA
  1. L-Xylulose
  2. no clinical signs or symptoms
  3. D-Xylose

HISTIDINEMIA Last update 16.05.2016_15:13:00
HISTIDINEMIA
  1. Histidine
  2. Imidazolepyruvic acid
  3. Imidazolelactic acid
  4. Imidazoleacetic acid
  5. N-Acetylhistidine
  6. Histamine
  7. N-Methylhistamine
  8. no clinical signs or symptoms
  9. mental retardation
  10. speech development, delayed, abnormal
  11. Organic acids, urine
  12. Amino acids, plasma
  13. Ferric chloride reaction

HISTIDINURIA Last update
HISTIDINURIA
  1. Histidine
  2. mental retardation
  3. seizures
  4. no clinical signs or symptoms
  5. Amino acids, urine
  6. myoclonus
  7. hearing defect, deafness

PRIMARY HYPEROXALURIA II, PH2 Last update
PRIMARY HYPEROXALURIA II, PH2
  1. L-Glyceric acid
  2. Oxalate
  3. renal failure, acute/chronic
  4. nephrocalcinosis
  5. urolithiasis
  6. hematuria
  7. infections (urinary tract)
  8. pain, abdominal

PRIMARY HYPEROXALURIA I, PH1 Last update
PRIMARY HYPEROXALURIA I, PH1
  1. Glycolic acid
  2. Glyoxylic acid
  3. Oxalate
  4. Alanine-glyoxylate-aminotransferase
  5. reducing substances, urine (Clinitest)
  6. nephrocalcinosis
  7. renal failure, acute/chronic
  8. urolithiasis
  9. peripheral neuropathy
  10. pain, bones
  11. large liver
  12. bone fractures
  13. myocarditis
  14. peripheral gangrene
  15. osteodystrophy, renal
  16. hyperparathyreoidism, secondary
  17. hematuria
  18. ECG abnormalities -

HOMOCYSTINURIA, CYSTATHIONINE BETA-SYNTHASE DEFICIENCY Last update 01.12.2015_21:18:14
HOMOCYSTINURIA, CYSTATHIONINE BETA-SYNTHASE DEFICIENCY
  1. Homocystine
  2. Methionine
  3. Cystathionine
  4. Homocysteine
  5. Coagulopathy/Coagulation factors
  6. Copper
  7. Ceruloplasmin
  8. Ornithine
  9. dislocated lens (ectopia lentis)
  10. mental retardation
  11. seizures
  12. thromboembolism
  13. osteoporosis
  14. arthritis
  15. X-ray, abnormalities
  16. pancreatitis
  17. myopia
  18. glaucoma
  19. optic atrophy
  20. cataract
  21. behavior, abnormal or bizarre, confusion
  22. liver, fatty
  23. retinal or macular degeneration
  24. skeletal changes
  25. skin, brittle
  26. inguinal hernia
  27. aortic valvular disease
  28. tall stature
  29. arachnodyctyly
  30. ataxia
  31. myoclonus
  32. cerebral vascular disease
  33. strokelike episodes
  34. EEG abnormalities -
  35. Cystine
  36. S-Adenosylhomocysteine
  37. S-Adenosylmethionine

HOMOCYSTINURIA, CblE TYPE OF Last update 15.05.2016_16:46:05
HOMOCYSTINURIA, CblE TYPE OF
  1. Hemoglobine
  2. Homocystine
  3. Methionine
  4. early death
  5. infections (severe or recurrent)
  6. microcephaly
  7. mental retardation
  8. seizures
  9. cortical or cerebral atrophy
  10. feeding difficulties, poor feeding
  11. failure to thrive
  12. vomiting
  13. lethargy, drowsiness, malaise or sleep disorder
  14. neurological deterioration
  15. hypotonia
  16. nystagmus
  17. retinopathy
  18. ataxia
  19. Amino acids, urine
  20. Amino acids, plasma
  21. anemia
  22. EEG abnormalities -
  23. onset, infant
  24. onset, child
  25. Methylmalonic acid
  26. headache (severe, recurrent or occipital, migraine)

NIEMANN-PICK DISEASE TYPE A Last update
NIEMANN-PICK DISEASE TYPE A
  1. Acid sphingomyelinase
  2. Sphingomyelin
  3. onset, infant
  4. ptosis (drooping eyelid)
  5. cirrhosis or fibrosis of liver
  6. interstitial pneumonitis
  7. large liver
  8. jaundice
  9. failure to thrive
  10. large spleen
  11. neurological deterioration
  12. progressive neurologic defect
  13. cherry-red spot on retinal macula
  14. early death
  15. Foam cells, bone marrow

METHYLMALONIC ACIDURIA, ATYPICAL Last update
METHYLMALONIC ACIDURIA, ATYPICAL
  1. Methylmalonic acid
  2. encephalopathy
  3. failure to thrive
  4. growth retardation
  5. mental retardation
  6. microcephaly
  7. dystonia
  8. hypertonia, spasticity
  9. cataract
  10. onset, infant
  11. ophthalmoplegia
  12. athetosis
  13. myopathy
  14. MRI, brain, abnormalities -
  15. peripheral neuropathy

ORNITHINE TRANSCARBAMYLASE DEFICIENCY (OTC) Last update
ORNITHINE TRANSCARBAMYLASE DEFICIENCY (OTC)
  1. Orotic acid
  2. Ammonia
  3. Urea nitrogen
  4. Glutamine
  5. Glycine
  6. Lysine
  7. Uracil
  8. Citrulline
  9. Ornithine
  10. tachypnea, hyperpnea, dyspnea, respiratory distress
  11. hypotonia
  12. mental retardation
  13. coma
  14. headache (severe, recurrent or occipital, migraine)
  15. ataxia
  16. seizures
  17. lethargy, drowsiness, malaise or sleep disorder
  18. behavior, abnormal or bizarre, confusion
  19. spastic diplegia/quadriplegia
  20. feeding difficulties, poor feeding
  21. vomiting
  22. hypothermia
  23. failure to thrive
  24. onset, newborn
  25. previous deaths
  26. onset, child
  27. MRI, brain, white matter abnormalities -
  28. hyperammonemia
  29. 5-Oxoproline
  30. Uric acid
  31. liver failure
  32. liver involvement (acute, chronic, hepatitis)
  33. Uridine

HOMOCYSTINURIA DUE TO DEFECT OF N(5,10)-METHYLENE THF DEFICIENCY Last update 15.05.2016_16:34:27
HOMOCYSTINURIA DUE TO DEFECT OF N(5,10)-METHYLENE THF DEFICIENCY
  1. onset, infant
  2. 5,10-Methylenetetrahydrofolate reductase
  3. Homocystine
  4. Methionine
  5. early death
  6. dislocated lens (ectopia lentis)
  7. myopathy
  8. tachypnea, hyperpnea, dyspnea, respiratory distress
  9. microcephaly
  10. mental retardation
  11. seizures
  12. thromboembolism
  13. onset, newborn
  14. encephalopathy
  15. paraparesis/paraplegia
  16. behavior, abnormal or bizarre, confusion

CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA AND KEARNS-SAYRE SYNDROM Last update 03.12.2015_15:18:42
CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA AND KEARNS-SAYRE SYNDROM
  1. Lactate
  2. Lactate/Pyruvate ratio
  3. pH
  4. Glucose
  5. Protein, total, spinal fluid
  6. retinal or macular degeneration
  7. optic atrophy
  8. cardiomyopathy
  9. ophthalmoplegia
  10. muscle weakness
  11. hearing defect, deafness
  12. tremor or twitching
  13. ataxia
  14. coma
  15. mental retardation
  16. growth retardation
  17. myopathy, ragged red fibers
  18. onset, infant
  19. cardiac arrhythmia, dysrhythmia
  20. CT, brain, abnormalities -
  21. EMG abnormalities -
  22. metabolic acidosis
  23. hypoglycemia
  24. lactic acidosis
  25. ptosis (drooping eyelid)
  26. vomiting

SARCOSINEMIA Last update
SARCOSINEMIA
  1. Sarcosine
  2. failure to thrive
  3. feeding difficulties, poor feeding
  4. mental retardation
  5. no clinical signs or symptoms
  6. cranial synostosis
  7. vomiting
  8. Amino acids, plasma
  9. Amino acids, urine
  10. ataxia
  11. cardiomyopathy
  12. growth retardation
  13. blindness, visual loss, visual impairment

DIABETES MELLITUS, INSULIN-DEPENDENT Last update
DIABETES MELLITUS, INSULIN-DEPENDENT
  1. Glucose
  2. Sodium
  3. Ketone bodies
  4. Insulin
  5. pH
  6. Bicarbonate
  7. pCO2
  8. C-peptide
  9. reducing substances, urine (Clinitest)
  10. polyuria
  11. polydipsia (increased drinking)
  12. weight loss
  13. dehydration
  14. coma
  15. onset, child
  16. onset, infant
  17. metabolic acidosis
  18. ketosis
  19. glucosuria
  20. D-Galactonic acid

N-ACETYLGLUTAMATE SYNTHETASE DEFICIENCY. NAGS DEFICIENCY Last update
N-ACETYLGLUTAMATE SYNTHETASE DEFICIENCY. NAGS DEFICIENCY
  1. Citrulline
  2. Orotic acid
  3. Ammonia
  4. N-Acetylglutamate synthetase
  5. Ornithine
  6. early death
  7. hypotonia
  8. coma
  9. lethargy, drowsiness, malaise or sleep disorder
  10. vomiting
  11. ataxia
  12. diarrhea
  13. seizures
  14. hyperreflexia
  15. onset, newborn
  16. onset, child
  17. Organic acids, urine
  18. Amino acids, plasma
  19. metabolic acidosis
  20. hyperammonemia
  21. failure to thrive
  22. Alanine
  23. Glutamine

CANAVAN DISEASE Last update 21.02.2016_12:40:21
CANAVAN DISEASE
  1. N-Acetylaspartic acid
  2. hearing defect, deafness
  3. Aspartoacylase
  4. early death
  5. optic atrophy
  6. macrocephaly (large calvaria, >2 SD for age)
  7. hypertonia, spasticity
  8. hypotonia
  9. myoclonus
  10. sweating
  11. motor retardation
  12. seizures
  13. lethargy, drowsiness, malaise or sleep disorder
  14. feeding difficulties, poor feeding
  15. vomiting
  16. constipation
  17. onset, newborn
  18. onset, infant
  19. blindness, visual loss, visual impairment
  20. DNA
  21. CT, brain, abnormalities -
  22. encephalopathy
  23. MRI, brain, abnormalities -
  24. MRS, brain, abnormalities -
  25. poor head control
  26. irritability
  27. fever
  28. Cholestanol
  29. Choline
  30. Creatine
  31. dysarthria
  32. opisthotonus
  33. nystagmus
  34. strokelike episodes

ETHYLMALONIC ENCEPHALOPATHY (EPEMA) Last update 06.12.2015_12:35:08
ETHYLMALONIC ENCEPHALOPATHY (EPEMA)
  1. Butyrylglycine
  2. Isovalerylglycine
  3. 2-Methylbutyrylglycine
  4. Isobutyrylglycine
  5. Ethylmalonic acid
  6. Lactate
  7. Methylsuccinic acid
  8. hypotonia
  9. peripheral neuropathy
  10. irritability
  11. spastic diplegia/quadriplegia
  12. feeding difficulties, poor feeding
  13. diarrhea
  14. failure to thrive
  15. onset, infant
  16. short stature
  17. cyanosis
  18. mental retardation
  19. petechiae
  20. peripheral vascular disease
  21. joint swelling
  22. MRI, brain, abnormalities -
  23. Organic acids, urine
  24. lactic acidosis
  25. early death
  26. seizures
  27. microcephaly
  28. lethargy, drowsiness, malaise or sleep disorder
  29. dystonia
  30. liver involvement (acute, chronic, hepatitis)
  31. respiratory insufficiency
  32. Carnitine
  33. Cytochrome c oxidase
  34. hematuria
  35. coma
  36. speech development, delayed, abnormal
  37. defect of walking, running, rising or climbing
  38. onset, newborn

HYDROXYLYSINURIA Last update
HYDROXYLYSINURIA
  1. Hydroxylysine
  2. no clinical signs or symptoms
  3. Amino acids, urine
  4. mental retardation
  5. seizures
  6. myoclonus
  7. behavior, hyperactive, restless

BLUE DIAPER SYNDROME Last update 07.12.2015_19:33:28
BLUE DIAPER SYNDROME
  1. Indican
  2. Indole-3-acetic acid
  3. 5-Hydroxyindolacetic acid
  4. nephrocalcinosis
  5. blue colored urine
  6. Calcium
  7. eye movements, abnormal
  8. microcornea

ADRENOLEUKODYSTROPHY, X-LINKED Last update 24.01.2016_17:34:37
ADRENOLEUKODYSTROPHY, X-LINKED
  1. C26:0/C22:0
  2. C24:0/C22:0
  3. C26:0
  4. Pipecolic acid
  5. C26:1
  6. seizures
  7. onset, child
  8. spastic diplegia/quadriplegia
  9. eye defect beginning in infancy or childhood
  10. blindness, visual loss, visual impairment
  11. dysphagia
  12. dysarthria
  13. ataxia
  14. behavior, hyperactive, restless
  15. behavior, abnormal or bizarre, confusion
  16. adrenal insufficiency
  17. neurological deterioration
  18. Very-long-chain fatty acids
  19. MRI, brain, abnormalities -
  20. Very-long-chain fatty acid oxidation
  21. onset, adult

GAUCHER DISEASE TYPE III Last update
GAUCHER DISEASE TYPE III
  1. Glucocerebrosidase
  2. onset, child
  3. behavior, hyperactive, restless
  4. mental retardation
  5. seizures
  6. extrapyramidal signs
  7. infections (severe or recurrent)
  8. large liver
  9. large spleen
  10. eye movements, abnormal
  11. ataxia
  12. neurological deterioration
  13. bone marrow abnormality
  14. DNA
  15. beta-Glucosidase

HYDROXYPROLINEMIA Last update
HYDROXYPROLINEMIA
  1. Hydroxyproline
  2. no clinical signs or symptoms
  3. Amino acids, plasma
  4. Amino acids, urine
  5. Glycine
  6. Proline

MITOCHONDRIAL-ENCEPHALOPATHY-LACTIC ACIDOSIS-STROKE (MELAS) Last update 07.05.2016_10:28:23
MITOCHONDRIAL-ENCEPHALOPATHY-LACTIC ACIDOSIS-STROKE (MELAS)
  1. Lactate
  2. Lactate/Pyruvate ratio
  3. Lipase
  4. pH
  5. onset, child
  6. infantile spasms
  7. hemiparesis/hemiparetic cerebral palsy
  8. strokelike episodes
  9. progressive neurologic defect
  10. headache (severe, recurrent or occipital, migraine)
  11. hearing defect, deafness
  12. hydrocephalus
  13. myopathy, ragged red fibers
  14. pancreatitis
  15. hypotonia
  16. microcephaly
  17. failure to thrive
  18. seizures
  19. pericardial effusion
  20. mental retardation
  21. motor retardation
  22. vomiting
  23. encephalopathy
  24. cardiomyopathy
  25. diabetes mellitus
  26. renal failure, acute/chronic
  27. Fanconi syndrome
  28. gastrointestinal hemorrhage (bleeding)
  29. MRI, brain, gray matter abnormalities -
  30. Single Photon Emission Computed Tomography (SPECT), abnormalities -
  31. lactic acidosis
  32. EEG abnormalities -
  33. onset, adolescent
  34. onset, adult
  35. muscle weakness
  36. cardiac arrhythmia, dysrhythmia
  37. cataract
  38. heart failure

ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE I: SCHINDLER DISEASE Last update 24.01.2016_16:05:29
ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE I: SCHINDLER DISEASE
  1. CT, brain, abnormalities -
  2. MRI, brain, abnormalities -
  3. alpha-N-Acetylgalactosaminidase
  4. Oligosaccharides
  5. Glycopeptides
  6. seizures
  7. onset, infant
  8. onset, child
  9. normal at birth
  10. neurological deterioration
  11. blindness, visual loss, visual impairment
  12. myoclonus
  13. mental retardation
  14. motor retardation
  15. hypotonia
  16. hyperreflexia
  17. strabismus
  18. optic atrophy
  19. nystagmus
  20. contractures, joints
  21. decreased muscle volume, atrophy or hypoplasia
  22. cerebellar atrophy or hypoplasia
  23. cerebral atrophy
  24. EEG abnormalities -
  25. cataract

HYPER BETA-ALANINEMIA Last update 11.06.2016_10:09:13
HYPER BETA-ALANINEMIA
  1. beta-Alanine
  2. Taurine
  3. gamma-Aminobutyric acid
  4. hypotonia
  5. defect of deep tendon reflexes
  6. seizures
  7. lethargy, drowsiness, malaise or sleep disorder
  8. onset, newborn
  9. early death
  10. Amino acids, plasma
  11. Amino acids, urine
  12. Amino acid, spinal fluid
  13. failure to thrive
  14. respiratory distress
  15. 3-Aminoisobutyric acid

HYPERCHOLESTEROLEMIA, FAMILIAL Last update
HYPERCHOLESTEROLEMIA, FAMILIAL
  1. Cholesterol
  2. Low-density lipoprotein (LDL)
  3. corneal deposits
  4. xanthoma
  5. hypertension
  6. heart failure
  7. arthritis
  8. corneal arcus
  9. coronary heart disease
  10. atherosclerosis
  11. tendinitis
  12. HDL cholesterol

HYPERDIBASIC AMINOACIDURIA I Last update
HYPERDIBASIC AMINOACIDURIA I
  1. Arginine
  2. Lysine
  3. Ornithine
  4. no clinical signs or symptoms
  5. Amino acids, urine
  6. mental retardation
  7. Cystine

HYPERGLYCINEMIA, NON-KETOTIC Last update
HYPERGLYCINEMIA, NON-KETOTIC
  1. Glycine
  2. Glycine cleavage enzyme
  3. early death
  4. tachypnea, hyperpnea, dyspnea, respiratory distress
  5. hypotonia
  6. mental retardation
  7. onset, newborn
  8. blindness, visual loss, visual impairment
  9. optic atrophy
  10. seizures
  11. onset, child
  12. EEG abnormalities -
  13. Amino acid, spinal fluid
  14. Amino acids, plasma
  15. MRI, brain, white matter abnormalities -
  16. hydrocephalus
  17. chorea or athetosis
  18. spastic diplegia/quadriplegia
  19. behavior, autism or autistic-like

MYOPATHY OR CARDIOMYOPATHY DUE TO DESMIN DEFECT Last update
MYOPATHY OR CARDIOMYOPATHY DUE TO DESMIN DEFECT
  1. Creatinine kinase
  2. muscle weakness
  3. decreased muscle volume, atrophy or hypoplasia
  4. cardiomyopathy
  5. early death
  6. onset, infant
  7. onset, adult
  8. ECG abnormalities -
  9. cardiac arrhythmia, dysrhythmia

MUCOPOLYSACCHARIDOSIS VII. SLY SYNDROME Last update
MUCOPOLYSACCHARIDOSIS VII. SLY SYNDROME
  1. Chondroitin 4/6 sulfate
  2. beta-Glucuronidase
  3. coarse facial features
  4. large liver
  5. large spleen
  6. corneal deposits
  7. short stature
  8. prominent abdomen
  9. umbilical hernia
  10. infections (severe or recurrent)
  11. hydrops fetalis
  12. dysostosis multiplex
  13. onset, child
  14. corneal clouding
  15. mental retardation
  16. Chondroitin sulfate, mixed isomers
  17. Mucopolysaccharides, urine
  18. Granulocytes, metachromatic
  19. Chondroitin-4-sulfate

MUCOPOLYSACCHARIDOSIS VI. MAROTEAUX-LAMY SYNDROME Last update
MUCOPOLYSACCHARIDOSIS VI. MAROTEAUX-LAMY SYNDROME
  1. N-Acetylgalactosamin-4-sulfate sulfatase
  2. Dermatan sulfate
  3. hydrocephalus
  4. growth retardation
  5. corneal deposits
  6. coarse facial features
  7. contractures, joints
  8. kyphoskoliosis
  9. large liver
  10. large spleen
  11. onset, child
  12. X-ray, abnormalities
  13. blindness, visual loss, visual impairment
  14. hearing defect, deafness
  15. umbilical hernia
  16. carpal tunnel syndrome
  17. skin, thickened
  18. cardiomyopathy
  19. heart failure
  20. cardiomegaly
  21. myelopathy
  22. short stature
  23. dysostosis multiplex
  24. dysmorphism
  25. Mucopolysaccharides, urine

GOUT Last update
GOUT
  1. Uric acid
  2. arthritis
  3. urolithiasis
  4. nephrosis
  5. onset, adult

HYPERLYSINEMIA I, FAMILIAL Last update
HYPERLYSINEMIA I, FAMILIAL
  1. Lysine
  2. Saccharopine
  3. Saccharopine dehydrogenase
  4. Pipecolic acid
  5. Lysine ketoglutarate reductase
  6. no clinical signs or symptoms
  7. seizures
  8. mental retardation
  9. Amino acids, plasma
  10. Amino acids, urine
  11. hypotonia
  12. hypertonia, spasticity
  13. dislocated lens (ectopia lentis)
  14. growth retardation
  15. Ornithine

HYPERLYSINURIA Last update
HYPERLYSINURIA
  1. Lysine
  2. no clinical signs or symptoms
  3. Amino acids, urine
  4. Hydroxylysine

METHIONINE ADENOSYL TRANSFERASE DEFICIENCY Last update 01.12.2015_21:03:15
METHIONINE ADENOSYL TRANSFERASE DEFICIENCY
  1. Methionine
  2. Methionine adenosyltransferase
  3. no clinical signs or symptoms
  4. unusual odor
  5. Amino acids, urine
  6. Amino acids, plasma
  7. MRI, brain, white matter abnormalities -
  8. Homocysteine
  9. mental retardation
  10. dystonia
  11. myopathy
  12. hyperreflexia

HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA HHH-SYNDROME Last update 16.05.2016_17:28:07
HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA HHH-SYNDROME
  1. Ornithine
  2. Homocitrulline
  3. Orotic acid
  4. Ammonia
  5. Glutamine
  6. Lysine
  7. Urea nitrogen
  8. 2-Aminopiperid-2-one
  9. tachypnea, hyperpnea, dyspnea, respiratory distress
  10. growth retardation
  11. mental retardation
  12. coma
  13. seizures
  14. lethargy, drowsiness, malaise or sleep disorder
  15. behavior, hyperactive, restless
  16. spastic diplegia/quadriplegia
  17. feeding difficulties, poor feeding
  18. vomiting
  19. hypothermia
  20. onset, newborn
  21. ataxia
  22. liver involvement (acute, chronic, hepatitis)
  23. bleeding time
  24. hyperammonemia
  25. onset, child
  26. Coagulopathy/Coagulation factors
  27. paraparesis/paraplegia
  28. Citrulline
  29. hypotonia
  30. strokelike episodes
  31. night blindness
  32. lens opacities
  33. failure to thrive
  34. large liver

MUCOPOLYSACCHARIDOSIS IV. MORQUIO A SYNDROME Last update
MUCOPOLYSACCHARIDOSIS IV. MORQUIO A SYNDROME
  1. Keratan sulfate
  2. Chondroitin-6-sulfate
  3. N-Acetylgalactosamin-6-sulfate sulfatase
  4. corneal deposits
  5. growth retardation
  6. short trunk
  7. kyphoskoliosis
  8. X-ray, abnormalities
  9. hypoplastic enamel (thin)
  10. prominent lower face
  11. short neck
  12. hearing defect, deafness
  13. normal at birth
  14. onset, child
  15. valvular heart disease
  16. myopathy
  17. hydrops fetalis
  18. skeletal changes
  19. corneal clouding
  20. dysostosis multiplex
  21. Mucopolysaccharides, urine
  22. dwarfism
  23. vertebral changes

MUCOPOLYSACCHARIDOSIS III. SAN FILIPPO A SYNDROME Last update
MUCOPOLYSACCHARIDOSIS III. SAN FILIPPO A SYNDROME
  1. Heparan sulfate
  2. Heparan-N-sulfamidase
  3. contractures, joints
  4. mental retardation
  5. behavior, hyperactive, restless
  6. progressive neurologic defect
  7. joint stiffness
  8. large liver
  9. large spleen
  10. inguinal hernia
  11. dysostosis multiplex
  12. onset, adolescent
  13. onset, child
  14. X-ray, abnormalities
  15. cardiomyopathy
  16. dysmorphism
  17. coarse facial features
  18. hypertrichosis
  19. Mucopolysaccharides, urine

HYPERPIPECOLATEMIA Last update
HYPERPIPECOLATEMIA
  1. Pipecolic acid
  2. Lysine
  3. Pipecolic oxidase
  4. early death
  5. dysmorphism
  6. mental retardation
  7. nystagmus
  8. large liver
  9. onset, newborn
  10. hypotonia
  11. seizures
  12. hearing defect, deafness
  13. neurological deterioration
  14. retinitis pigmentosa
  15. optic atrophy
  16. Amino acids, plasma

HYPERPROLINEMIA, TYPE I Last update 16.05.2016_15:02:05
HYPERPROLINEMIA, TYPE I
  1. Proline
  2. Proline oxidase
  3. Glycine
  4. Hydroxyproline
  5. no clinical signs or symptoms
  6. seizures
  7. Amino acids, plasma
  8. Amino acids, urine
  9. mental retardation
  10. renal cysts
  11. Pipecolic acid
  12. learning disability
  13. hypotonia
  14. behavior, abnormal or bizarre, confusion
  15. behavior, hyperactive, restless

HYPERVALINEMIA Last update
HYPERVALINEMIA
  1. Valine
  2. muscle weakness
  3. growth retardation
  4. mental retardation
  5. Amino acids, plasma
  6. Amino acids, urine
  7. vomiting
  8. failure to thrive
  9. lethargy, drowsiness, malaise or sleep disorder
  10. behavior, hyperactive, restless

HYPOGLYCEMIA, FAMILIAL NEONATAL Last update
HYPOGLYCEMIA, FAMILIAL NEONATAL
  1. Glucose
  2. Insulin
  3. seizures
  4. lethargy, drowsiness, malaise or sleep disorder
  5. strabismus
  6. mental retardation
  7. onset, newborn
  8. hypoglycemia
  9. ataxia
  10. coma
  11. hyperammonemia

MUCOPOLYSACCHARIDOSIS II. HUNTER SYNDROME Last update
MUCOPOLYSACCHARIDOSIS II. HUNTER SYNDROME
  1. Dermatan sulfate
  2. Heparan sulfate
  3. Iduronide-2-sulfate sulfatase
  4. contractures, joints
  5. inguinal hernia
  6. large liver
  7. large spleen
  8. joint stiffness
  9. coarse facial features
  10. growth retardation
  11. short stature
  12. skin, thickened
  13. thick or large lips
  14. hearing defect, deafness
  15. coronary heart disease
  16. dysostosis multiplex
  17. X-ray, abnormalities
  18. neurological deterioration
  19. carpal tunnel syndrome
  20. obstructive airway disease
  21. diarrhea
  22. retinal or macular degeneration
  23. infections (severe or recurrent)
  24. hydrocephalus
  25. early death
  26. cardiomyopathy
  27. behavior, hyperactive, restless
  28. dysmorphism
  29. mental retardation
  30. Mucopolysaccharides, urine
  31. dwarfism
  32. hypertrichosis
  33. macrocephaly (large calvaria, >2 SD for age)
  34. skin, abnormal

MUCOPOLYSACCHARIDOSIS I-S. SCHEIE SYNDROME Last update
MUCOPOLYSACCHARIDOSIS I-S. SCHEIE SYNDROME
  1. Dermatan sulfate
  2. Heparan sulfate
  3. alpha-Iduronidase
  4. onset, child
  5. corneal deposits
  6. coarse facial features
  7. dysostosis multiplex
  8. joint stiffness
  9. carpal tunnel syndrome
  10. glaucoma
  11. blindness, visual loss, visual impairment
  12. myopathy
  13. obstructive airway disease
  14. Mucopolysaccharides, urine
  15. corneal clouding
  16. retinitis pigmentosa

MUCOPOLYSACCHARIDOSIS I-H. HURLER SYNDROME Last update
MUCOPOLYSACCHARIDOSIS I-H. HURLER SYNDROME
  1. Dermatan sulfate
  2. Heparan sulfate
  3. alpha-Iduronidase
  4. macroglossia, large/protuding tongue
  5. corneal deposits
  6. large liver
  7. large spleen
  8. coarse facial features
  9. contractures, joints
  10. flat depressed nasal bridge (saddle nose)
  11. joint stiffness
  12. inguinal hernia
  13. blindness, visual loss, visual impairment
  14. short stature
  15. motor retardation
  16. mental retardation
  17. onset, child
  18. normal at birth
  19. cardiomyopathy
  20. glaucoma
  21. infections (severe or recurrent)
  22. hydrocephalus
  23. obstructive airway disease
  24. hydrops fetalis
  25. corneal clouding
  26. dysmorphism
  27. dysostosis multiplex
  28. Mucopolysaccharides, urine

MULTIPLE SULFATASE DEFICIENCY (MSD) Last update
MULTIPLE SULFATASE DEFICIENCY (MSD)
  1. Arylsulfatase A
  2. Arylsulfatase B
  3. Arylsulfatase C
  4. Iduronide-2-sulfate sulfatase
  5. Heparan-N-sulfamidase
  6. N-Acetylgalactosamin-6-sulfate sulfatase
  7. N-Acetylglucosamine-6-sulfate sulfatase
  8. Protein, total, spinal fluid
  9. neurological deterioration
  10. progressive neurologic defect
  11. motor retardation
  12. defect of walking, running, rising or climbing
  13. spastic diplegia/quadriplegia
  14. hearing defect, deafness
  15. blindness, visual loss, visual impairment
  16. swallowing difficulties
  17. seizures
  18. dysmorphism
  19. large liver
  20. joint stiffness
  21. growth retardation
  22. skeletal changes
  23. optic atrophy
  24. retinal or macular degeneration
  25. cherry-red spot on retinal macula
  26. ichthyosis
  27. onset, newborn
  28. onset, child
  29. corneal clouding
  30. broad thumbs
  31. great toes

MUCOLIPIDOSIS III Last update
MUCOLIPIDOSIS III
  1. UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine
  2. beta-Hexosaminidase
  3. Iduronate sulfatase
  4. Arylsulfatase A
  5. corneal deposits
  6. joint stiffness
  7. contractures, joints
  8. short stature
  9. coarse facial features
  10. mental retardation
  11. onset, child
  12. skin, thickened
  13. aortic valvular disease
  14. skeletal changes
  15. carpal tunnel syndrome
  16. retinopathy
  17. corneal clouding
  18. behavior, self-mutilating or destructive
  19. dysostosis multiplex
  20. X-ray, abnormalities
  21. hip dysplasia
  22. dwarfism
  23. acne
  24. hearing defect, deafness
  25. valvular heart disease
  26. macroglossia, large/protuding tongue
  27. cardiomyopathy
  28. neuropathy

MUCOLIPIDOSIS II Last update
MUCOLIPIDOSIS II
  1. beta-Hexosaminidase
  2. Iduronate sulfatase
  3. Arylsulfatase A
  4. UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine
  5. osteoporosis
  6. coarse facial features
  7. kyphoskoliosis
  8. contractures, joints
  9. cardiomegaly
  10. motor retardation
  11. gingiva, hyperplastic
  12. infections (severe or recurrent)
  13. onset, newborn
  14. onset, infant
  15. mental retardation
  16. large liver
  17. macroglossia, large/protuding tongue
  18. birthweight low (small for gestational age)
  19. corneal deposits
  20. umbilical hernia
  21. cardiomyopathy
  22. corneal clouding
  23. dysmorphism
  24. hearing defect, deafness
  25. hydrops fetalis
  26. skin, thickened
  27. dwarfism
  28. valvular heart disease
  29. constipation
  30. diarrhea
  31. hip dysplasia
  32. hernia

GLUCAGON DEFICIENCY Last update
GLUCAGON DEFICIENCY
  1. Glucose
  2. Glucagon
  3. early death
  4. hypoglycemia

MUCOPOLYSACCHARIDOSIS III. SAN FILIPPO B SYNDROME Last update
MUCOPOLYSACCHARIDOSIS III. SAN FILIPPO B SYNDROME
  1. Heparan sulfate
  2. alpha-N-Acetylglucosaminidase
  3. mental retardation
  4. behavior, hyperactive, restless
  5. progressive neurologic defect
  6. joint stiffness
  7. large liver
  8. large spleen
  9. inguinal hernia
  10. dysostosis multiplex
  11. onset, child
  12. onset, adolescent
  13. X-ray, abnormalities
  14. contractures, joints
  15. Mucopolysaccharides, urine
  16. coarse facial features
  17. hypertrichosis
  18. hearing defect, deafness

MUCOPOLYSACCHARIDOSIS III. SAN FILIPPO C SYNDROME Last update
MUCOPOLYSACCHARIDOSIS III. SAN FILIPPO C SYNDROME
  1. Heparan sulfate
  2. Acetyl-CoA: alpha-glucosaminide N-acetyltransferase
  3. mental retardation
  4. behavior, hyperactive, restless
  5. progressive neurologic defect
  6. joint stiffness
  7. large liver
  8. large spleen
  9. inguinal hernia
  10. dysostosis multiplex
  11. onset, child
  12. onset, adolescent
  13. contractures, joints
  14. X-ray, abnormalities
  15. Mucopolysaccharides, urine
  16. hearing defect, deafness

MUCOPOLYSACCHARIDOSIS III. SAN FILIPPO D SYNDROME Last update
MUCOPOLYSACCHARIDOSIS III. SAN FILIPPO D SYNDROME
  1. Heparan sulfate
  2. N-Acetylglucosamine-6-sulfate sulfatase
  3. mental retardation
  4. behavior, hyperactive, restless
  5. progressive neurologic defect
  6. joint stiffness
  7. large liver
  8. large spleen
  9. inguinal hernia
  10. dysostosis multiplex
  11. onset, child
  12. onset, adolescent
  13. X-ray, abnormalities
  14. contractures, joints
  15. Mucopolysaccharides, urine
  16. coarse facial features
  17. hearing defect, deafness
  18. heart failure

MUCOPOLYSACCHARIDOSIS IV. MORQUIO B SYNDROME Last update
MUCOPOLYSACCHARIDOSIS IV. MORQUIO B SYNDROME
  1. Keratan sulfate
  2. beta-Galactosidase
  3. corneal deposits
  4. growth retardation
  5. short trunk
  6. kyphoskoliosis
  7. X-ray, abnormalities
  8. hip dysplasia
  9. prominent lower face
  10. short neck
  11. hearing defect, deafness
  12. Mucopolysaccharides, urine
  13. short stature
  14. infections (severe or recurrent)
  15. large liver
  16. hernia

TRANSCOBALAMIN II DEFICIENCY Last update
TRANSCOBALAMIN II DEFICIENCY
  1. Methylmalonic acid
  2. Hemoglobine
  3. Transcobalamin
  4. onset, infant
  5. pallor
  6. feeding difficulties, poor feeding
  7. vomiting
  8. diarrhea
  9. glossitis
  10. lethargy, drowsiness, malaise or sleep disorder
  11. neurological deterioration
  12. seizures
  13. behavior, abnormal or bizarre, confusion
  14. anemia
  15. neutropenia (decreased neutrophils)
  16. thrombopenia, thrombocytopenia
  17. Organic acids, urine
  18. EEG abnormalities -
  19. failure to thrive
  20. Homocystine
  21. Homocysteine
  22. unsaturated vitamin B12 binding capacity

KETOTIC HYPOGLYCEMIA Last update
KETOTIC HYPOGLYCEMIA
  1. Glucose
  2. Ketone bodies
  3. vomiting
  4. onset, child
  5. hypoglycemia
  6. ketosis

21-HYDROXYLASE DEFICIENCY (CYP21) Last update 02.12.2015_16:56:48
21-HYDROXYLASE DEFICIENCY (CYP21)
  1. 17-Hydroxy-Progesteron
  2. pH
  3. Glucose
  4. Potassium
  5. Sodium
  6. Aldosterone
  7. Progesterone
  8. 17-Hydroxypregnenolone
  9. 21-Deoxycortisol
  10. Androstendione
  11. Dehydroepiandrosterone (DHEA)
  12. 17-Ketosteroids
  13. dehydration
  14. hypotonia
  15. vomiting
  16. diarrhea
  17. hyperpigmentation
  18. clitoral hypertrophy
  19. genitalia, ambigous
  20. ultrasound, abdominal, abnormal -
  21. adrenal hyperplasia
  22. masculinisation of the female
  23. ECG abnormalities -
  24. Adrenocorticotropic hormone (ACTH)
  25. Cortisol
  26. metabolic alkalosis
  27. hypoglycemia
  28. Pregnantriol
  29. fever
  30. virilisation

3-METHYLGLUTACONIC ACIDURIA (TYPE IV) Last update 03.01.2016_19:02:44
3-METHYLGLUTACONIC ACIDURIA (TYPE IV)
  1. 3-Methylglutaconic acid
  2. 3-Methylglutaric acid
  3. 2-Oxoglutaric acid
  4. onset, newborn
  5. mental retardation
  6. motor retardation
  7. microcephaly
  8. hypotonia
  9. hypertonia, spasticity
  10. optic atrophy
  11. early death
  12. no clinical signs or symptoms
  13. Ammonia
  14. anemia
  15. Organic acids, urine
  16. hyperammonemia
  17. hearing defect, deafness
  18. cardiomyopathy
  19. seizures
  20. cataract
  21. Lactate
  22. Creatinine kinase
  23. Glucose
  24. liver involvement (acute, chronic, hepatitis)
  25. Carnitine
  26. Citrate
  27. Methionine

FAMILIAL LIPOPROTEIN LIPASE DEFICIENCY Last update 22.09.2009_16:16:07
FAMILIAL LIPOPROTEIN LIPASE DEFICIENCY
  1. Chylomicrons
  2. Triglycerides
  3. Lipoprotein lipase
  4. xanthoma
  5. pancreatitis
  6. large spleen
  7. vomiting
  8. pain, abdominal
  9. atherosclerosis
  10. large liver
  11. recent memory loss
  12. dyspnea
  13. lipemia retinalis
  14. Uric acid

TRIFUNCTIONAL PROTEIN DEFICIENCY Last update 11.12.2015_21:27:17
TRIFUNCTIONAL PROTEIN DEFICIENCY
  1. 3-Hydroxydicarboxylic acid
  2. 3-Oxoacyl-CoA thiolase
  3. Glucose
  4. Dicarboxylic acids, urine
  5. Creatinine kinase
  6. Long-chain 3-hydroxyacyl-CoA dehydrogenase
  7. 2-Enoyl-CoA hydratase
  8. 3-Hydroxysuberic acid
  9. onset, newborn
  10. hypotonia
  11. cardiomyopathy
  12. muscle weakness
  13. respiratory insufficiency
  14. steatorrhea
  15. myopathy
  16. early death
  17. Organic acids, urine
  18. hypoglycemia
  19. rhabdomyolysis
  20. respiratory distress
  21. retinitis pigmentosa
  22. birthweight low (small for gestational age)
  23. failure to thrive
  24. cardiac involvement
  25. liver involvement (acute, chronic, hepatitis)
  26. pain, muscle
  27. lactic acidosis
  28. hydrops fetalis
  29. HELLP syndrome
  30. hyperammonemia
  31. cardiac arrhythmia, dysrhythmia
  32. coma
  33. peripheral neuropathy
  34. Transaminases
  35. Carnitine
  36. Ammonia

HYPOADRENOCORTICISM, FAMILIAL Last update
HYPOADRENOCORTICISM, FAMILIAL
  1. Glucose
  2. Cortisol
  3. seizures
  4. onset, newborn
  5. cyanosis
  6. tachypnea, hyperpnea, dyspnea, respiratory distress
  7. vomiting
  8. adrenal atrophy (autopsy)
  9. Sodium
  10. Potassium
  11. hypoglycemia

HYPERPROLINEMIA, TYPE II Last update 16.05.2016_15:00:49
HYPERPROLINEMIA, TYPE II
  1. Proline
  2. Pyrroline-5-carboxylic dehydrogenase
  3. Glycine
  4. Hydroxyproline
  5. no clinical signs or symptoms
  6. seizures
  7. mental retardation
  8. Amino acids, plasma
  9. Amino acids, urine
  10. renal failure, acute/chronic
  11. Ornithine
  12. EEG abnormalities -

HYPERCYSTINURIA Last update 15.05.2016_16:54:52
HYPERCYSTINURIA
  1. Cystine
  2. no clinical signs or symptoms
  3. Amino acids, urine

LONG-CHAIN-3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (LCHAD) Last update 22.01.2016_19:19:18
LONG-CHAIN-3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (LCHAD)
  1. speech development, delayed, abnormal
  2. lactic acidosis
  3. microcephaly
  4. feeding difficulties, poor feeding
  5. cardiac arrhythmia, dysrhythmia
  6. seizures
  7. coma
  8. Glucose
  9. Carnitine
  10. Transaminases
  11. Lactate
  12. 3-Hydroxyacyl-CoA dehydrogenase
  13. 3-Hydroxyadipic acid
  14. 3-Hydroxysuberic acid
  15. 3-Hydroxybutyric acid
  16. Creatinine kinase
  17. Myoglobin
  18. pH
  19. Long chain acyl carnitines
  20. Ammonia
  21. 3-Hydroxysebacic acid
  22. cardiomyopathy
  23. early death
  24. vomiting
  25. diarrhea
  26. failure to thrive
  27. lethargy, drowsiness, malaise or sleep disorder
  28. hypotonia
  29. large liver
  30. retinitis pigmentosa
  31. liver involvement (acute, chronic, hepatitis)
  32. neurological deterioration
  33. peripheral neuropathy
  34. liver failure
  35. onset, infant
  36. onset, newborn
  37. onset, child
  38. motor retardation
  39. retinopathy
  40. myopathy
  41. encephalopathy
  42. brown colored urine
  43. metabolic acidosis
  44. Long-chain 3-hydroxyacyl-CoA dehydrogenase
  45. Organic acids, plasma
  46. Organic acids, urine
  47. Dicarboxylic acids, urine
  48. hypoglycemia
  49. hyperammonemia
  50. rhabdomyolysis
  51. blindness, visual loss, visual impairment
  52. preeclampsia, maternal
  53. HELLP syndrome
  54. 3-Hydroxypalmitoylcarnitine (C16-OH)
  55. 3-Hydroxystearoylcarnitine (C18-OH)
  56. maternal acute fatty liver of pregnancy
  57. Oleoylcarnitine (C18:1)
  58. 3-Hydroxyoleoylcarnitine (C18:1-OH)
  59. pericardial effusion

G(M2)-GANGLIOSIDOSIS: VARIANT B, TAY-SACHS DISEASE Last update
G(M2)-GANGLIOSIDOSIS: VARIANT B, TAY-SACHS DISEASE
  1. Hexosaminidase A
  2. Hexosaminidase B
  3. blindness, visual loss, visual impairment
  4. cherry-red spot on retinal macula
  5. hypotonia
  6. dysostosis multiplex
  7. large liver
  8. encephalopathy
  9. mental retardation
  10. onset, infant
  11. seizures
  12. spastic diplegia/quadriplegia
  13. myoclonus
  14. infections (severe or recurrent)
  15. ataxia
  16. psychosis
  17. macrocephaly (large calvaria, >2 SD for age)
  18. Oligosaccharides
  19. CT, brain, abnormalities -

5-OXOPROLINASE DEFICIENCY Last update 06.12.2015_16:57:56
5-OXOPROLINASE DEFICIENCY
  1. 5-Oxoproline
  2. 5-Oxoprolinase
  3. respiratory distress
  4. urolithiasis
  5. mental retardation
  6. failure to thrive
  7. microcephaly
  8. cleft palate
  9. no clinical signs or symptoms
  10. hypotonia
  11. anemia
  12. Organic acids, urine
  13. pain, abdominal
  14. diarrhea
  15. metabolic acidosis
  16. vomiting

3-HYDROXYISOBUTYRIC ACIDURIA Last update 22.01.2016_19:25:43
3-HYDROXYISOBUTYRIC ACIDURIA
  1. 3-Hydroxyisobutyric acid
  2. 3-Hydroxypropionic acid
  3. 2-Ethylhydracrilic acid
  4. 3-Hydroxyisovaleric acid
  5. Lactate
  6. Carnitine
  7. dysmorphism
  8. microcephaly
  9. clinodactyly
  10. vomiting
  11. failure to thrive
  12. dehydration
  13. hypotonia
  14. early death
  15. metabolic acidosis
  16. MRI, brain, abnormalities -
  17. Ketone bodies
  18. Organic acids, urine
  19. ketosis
  20. lactic acidosis
  21. respiratory insufficiency
  22. 3-Hydroxyisovalerylcarnitine (C5-OH)
  23. cerebral calcifications

PEARSON SYNDROM Last update 02.01.2016_17:09:20
PEARSON SYNDROM
  1. Lactate
  2. 3-Methylglutaconic acid
  3. 3-Hydroxy-3-methylglutaric acid
  4. Lactate/Pyruvate ratio
  5. Hemoglobine
  6. Leucocytes
  7. diarrhea
  8. pancreatic insufficiency
  9. pancreatitis
  10. early death
  11. onset, infant
  12. onset, child
  13. mental retardation
  14. corneal deposits
  15. neutropenia (decreased neutrophils)
  16. anemia
  17. metabolic acidosis
  18. pancytopenia
  19. Organic acids, urine
  20. ketosis
  21. lactic acidosis
  22. Citrulline
  23. heart involvement
  24. birthweight low (small for gestational age)
  25. failure to thrive
  26. malabsorption

ALEXANDER DISEASE Last update 17.01.2016_22:44:39
ALEXANDER DISEASE
  1. alpha-B-crystallin
  2. macrocephaly (large calvaria, >2 SD for age)
  3. motor retardation
  4. mental retardation
  5. seizures
  6. hypertonia, spasticity
  7. dysarthria
  8. feeding difficulties, poor feeding
  9. vomiting
  10. paraparesis/paraplegia
  11. ultrasound, cranial, abnormalities -
  12. MRI, brain, white matter abnormalities -
  13. ataxia
  14. spastic diplegia/quadriplegia
  15. early death
  16. hydrocephalus
  17. Protein, total, spinal fluid
  18. Rosenthal fibers
  19. hypothermia
  20. lethargy, drowsiness, malaise or sleep disorder
  21. dysphagia
  22. leukoencephalopathy

2-AMINOADIPIC ACIDURIA Last update 02.12.2015_16:34:43
2-AMINOADIPIC ACIDURIA
  1. 2-Aminoadipic acid
  2. mental retardation
  3. seizures
  4. hypotonia
  5. bleeding tendencies, hemorrhages
  6. tachypnea, hyperpnea, dyspnea, respiratory distress
  7. edema
  8. onset, newborn
  9. microcephaly
  10. 2-Hydroxyadipic acid
  11. 2-Ketoadipic acid
  12. speech development, delayed, abnormal
  13. behavior, hyperactive, restless

NIEMANN-PICK DISEASE TYPE B Last update
NIEMANN-PICK DISEASE TYPE B
  1. Acid sphingomyelinase
  2. Sphingomyelin
  3. onset, child
  4. cherry-red spot on retinal macula
  5. interstitial pneumonitis
  6. large liver
  7. large spleen
  8. early death
  9. Foam cells, bone marrow

NIEMANN-PICK DISEASE TYPE C Last update
NIEMANN-PICK DISEASE TYPE C
  1. Sphingomyelin
  2. Cholesterol
  3. large liver
  4. large spleen
  5. ophthalmoplegia
  6. ataxia
  7. dystonia
  8. progressive neurologic defect
  9. ascites
  10. jaundice
  11. hypotonia
  12. onset, child
  13. seizures
  14. early death
  15. hydrops fetalis
  16. liver failure
  17. Foam cells, bone marrow
  18. conjunctival biopsy, abnormal
  19. Cholesterol, intracellular
  20. MRI, brain, abnormalities -
  21. onset, adult
  22. psychosis
  23. Chitotriosidase

ADRENOLEUKODYSTROPHY, NEONATAL Last update 24.01.2016_17:23:37
ADRENOLEUKODYSTROPHY, NEONATAL
  1. C26:0
  2. C26:1
  3. Phytanic acid
  4. Pristanic acid
  5. Adipic acid
  6. Suberic acid
  7. Sebacic acid
  8. Pimelic acid
  9. Azelaic acid
  10. Dihydroxycholestanoic acid
  11. Trihydroxycholestanoic acid
  12. seizures
  13. neurological deterioration
  14. early death
  15. infections (severe or recurrent)
  16. adrenal atrophy (autopsy)
  17. cataract
  18. prominent forehead
  19. epicanthus or medial eyelid fold
  20. low set ears
  21. onset, newborn
  22. mental retardation
  23. demyelinisation
  24. micropolygyria
  25. MRI, brain, abnormalities -
  26. dysmorphism
  27. feeding difficulties, poor feeding
  28. failure to thrive
  29. Peroxisomes, liver
  30. Plasmalogens, biosynthesis
  31. Dihydroxyacetone-phosphate acyltransferase (DHAPAT)
  32. Alkyl-dihydroxyacetone-phosphate synthase
  33. Very-long-chain fatty acid oxidation
  34. Phytanic acid oxidation
  35. Pipecolic acid
  36. Peroxisomal Acyl-CoA oxidase
  37. Peroxisomal 3-oxoacyl-CoA thiolase
  38. Peroxisomal bifunctional enzyme
  39. Very-long-chain fatty acids
  40. EEG abnormalities -
  41. Dicarboxylic acids, urine
  42. blindness, visual loss, visual impairment
  43. hearing defect, deafness

TYROSINEMIA, TRANSIENT, OF THE NEWBORN Last update
TYROSINEMIA, TRANSIENT, OF THE NEWBORN
  1. Tyrosine
  2. 4-Hydroxyphenylacetic acid
  3. 4-Hydroxyphenyllactic acid
  4. 4-Hydroxyphenylpyruvic acid
  5. lethargy, drowsiness, malaise or sleep disorder
  6. no clinical signs or symptoms
  7. Amino acids, plasma
  8. Organic acids, urine

TYROSINEMIA III Last update 02.12.2015_15:13:02
TYROSINEMIA III
  1. Tyrosine
  2. 4-Hydroxyphenylacetic acid
  3. 4-Hydroxyphenyllactic acid
  4. 4-Hydroxyphenylpyruvic acid
  5. ataxia
  6. cerebral atrophy
  7. seizures
  8. Amino acids, plasma
  9. Organic acids, urine
  10. MRI, brain, abnormalities -
  11. mental retardation
  12. lethargy, drowsiness, malaise or sleep disorder

RENAL TUBULAR ACIDOSIS, PROXIMAL, RTA TYPE II Last update
RENAL TUBULAR ACIDOSIS, PROXIMAL, RTA TYPE II
  1. Potassium
  2. Chloride
  3. pH
  4. short stature
  5. growth retardation
  6. Fanconi syndrome
  7. failure to thrive
  8. fever
  9. dehydration
  10. metabolic acidosis
  11. glaucoma
  12. cataract
  13. mental retardation

17-ALPHA-HYDROXYLASE DEFICIENCY (CYP17) Last update 02.12.2015_16:25:24
17-ALPHA-HYDROXYLASE DEFICIENCY (CYP17)
  1. 11-Deoxycorticosterone
  2. 18-Hydroxydeoxycorticosterone
  3. Corticosterone
  4. Pregnenolone
  5. Progesterone
  6. Cortisol
  7. Adrenocorticotropic hormone (ACTH)
  8. Tetrahydro-11-deoxycorticosterone
  9. Tetrahydro-11-deoxycortisol
  10. Sodium
  11. Potassium
  12. puberty, delayed or missing
  13. amennorrhea
  14. genitalia, ambigous
  15. hypertension
  16. Glucocorticoids
  17. Deoxycorticosterone (DOC)
  18. 17-Hydroxy-Progesteron
  19. metabolic alkalosis

2-METHYL-3-HYDROXYBUTYRYL-CoA DEHYDROGENASE DEFICIENCY Last update 12.12.2015_20:39:53
2-METHYL-3-HYDROXYBUTYRYL-CoA DEHYDROGENASE DEFICIENCY
  1. Lactate
  2. 2-Methyl-3-hydroxybutyric acid
  3. Tiglylglycine
  4. lactic acidosis
  5. mental retardation
  6. motor retardation
  7. progressive neurologic defect
  8. behavior, hyperactive, restless
  9. hypotonia
  10. onset, child
  11. dysarthria
  12. tremor or twitching
  13. cerebral atrophy
  14. early death
  15. hearing defect, deafness
  16. onset, newborn
  17. anemia
  18. nystagmus
  19. speech development, delayed, abnormal
  20. seizures
  21. 2-Ethylhydracrilic acid
  22. ketosis
  23. cardiomyopathy
  24. chorea or athetosis
  25. metabolic acidosis
  26. onset, infant

VALPROATE THERAPY: ANTICONVULASANT HYPERSENSITIVITY SYNDROME VALPROATE ASSOCIATED HEPATOTOXICITY Last update
VALPROATE THERAPY: ANTICONVULASANT HYPERSENSITIVITY SYNDROME VALPROATE ASSOCIATED HEPATOTOXICITY
  1. Amylase
  2. Glycine
  3. 3-Hydroxypropionic acid
  4. Transaminases
  5. Lactate
  6. 2-n-propyl-4-pentenoic acid
  7. Ammonia
  8. Carnitine
  9. Lipase
  10. pancreatitis
  11. liver involvement (acute, chronic, hepatitis)
  12. nausea
  13. coma
  14. liver failure
  15. vomiting
  16. Organic acids, urine
  17. Amino acids, plasma
  18. hyperammonemia
  19. lactic acidosis
  20. dermatitis
  21. Thrombocytes, Platelets

APOLIPOPROTEIN C-II DEFICIENCY Last update 24.01.2016_17:53:37
APOLIPOPROTEIN C-II DEFICIENCY
  1. Triglycerides
  2. pain, abdominal
  3. pancreatitis
  4. xanthoma
  5. large liver
  6. large spleen
  7. onset, adolescent
  8. recent memory loss
  9. lipemia retinalis
  10. anemia
  11. Chylomicrons
  12. Very low density lipoproteins (VLDL)
  13. Cholesterol
  14. HDL cholesterol

FAMILIAL HYPERINSULINEMIA AND HYPERPROINSULINEAMIA WITH MILD DIABETES Last update 22.09.2009_16:14:24
FAMILIAL HYPERINSULINEMIA AND HYPERPROINSULINEAMIA WITH MILD DIABETES
  1. Insulin
  2. Glucose
  3. C-peptide
  4. hyperinsulinism
  5. Glucose tolerance, impaired

METHYLMALONIC ACIDURIA, cblA TYPE Last update
METHYLMALONIC ACIDURIA, cblA TYPE
  1. Methylmalonic acid
  2. Glycine
  3. Methylcitric acid
  4. Ketone bodies
  5. pH
  6. Ammonia
  7. Hemoglobine
  8. early death
  9. onset, newborn
  10. vomiting
  11. seizures
  12. mental retardation
  13. coma
  14. onset, infant
  15. Organic acids, plasma
  16. Organic acids, urine
  17. Amino acids, plasma
  18. metabolic acidosis
  19. Amino acids, urine
  20. neutropenia (decreased neutrophils)
  21. thrombopenia, thrombocytopenia
  22. anemia
  23. hypoglycemia
  24. encephalopathy
  25. dehydration
  26. failure to thrive
  27. Glucose
  28. Thrombocytes, Platelets
  29. hyperammonemia
  30. ketosis

DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY (DHPD) Last update
DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY (DHPD)
  1. 5-Hydroxymethyluracil
  2. Uracil
  3. Thymine
  4. nystagmus
  5. microphthalmus
  6. microcephaly
  7. seizures
  8. hypertonia, spasticity
  9. mental retardation
  10. feeding difficulties, poor feeding
  11. growth retardation
  12. large liver
  13. EEG abnormalities -
  14. Organic acids, urine
  15. onset, adult
  16. onset, child
  17. Uric acid

FEEDING: NUTRITIONAL DEFICIENCIES RESULTING FROM MILK ALTERNATIVES DD Last update
FEEDING: NUTRITIONAL DEFICIENCIES RESULTING FROM MILK ALTERNATIVES DD
  1. Sarcosine
  2. Folate
  3. Amino acids, urine
  4. motor retardation
  5. kwashiorkor
  6. edema
  7. skin, pigmentation
  8. skin defects
  9. abdominal distension
  10. irritability
  11. sparse or absent scalp hair (focal or general)
  12. Albumin
  13. anemia
  14. rickets

FEEDING: VEGANIAN DD Last update 14.05.2016_11:13:55
FEEDING: VEGANIAN DD
  1. Methylmalonic acid
  2. Vitamin B12
  3. Carnitine
  4. mental retardation
  5. motor retardation
  6. decreased muscle volume, atrophy or hypoplasia
  7. behavior, abnormal or bizarre, confusion
  8. failure to thrive
  9. feeding difficulties, poor feeding
  10. onset, infant
  11. Organic acids, urine
  12. anemia
  13. Holotranscobalamin
  14. Homocysteine
  15. edema

SMITH-LEMLI-OPITZ SYNDROME Last update
SMITH-LEMLI-OPITZ SYNDROME
  1. Cholesterol
  2. 7-Dehydrocholesterol
  3. 8-Dehydrocholesterol
  4. 7-Dehydrocholesterol reductase
  5. 3-Methylglutaconic acid
  6. renal cysts
  7. anteverted nostril
  8. broad nasal bridge
  9. failure to thrive
  10. mental retardation
  11. myelination, incomplete
  12. congenital heart defect
  13. urinary tract defects
  14. polydactyly
  15. syndactyly
  16. limb abnormalities, limb deformities
  17. genitalia, ambigous
  18. cryptorchism
  19. hypospadia
  20. broad forehead (wide)
  21. short nose
  22. small chin or micrognathia
  23. low set ears
  24. cataract
  25. ptosis (drooping eyelid)
  26. microcephaly
  27. dysmorphism
  28. short neck
  29. behavior, self-mutilating or destructive
  30. liver involvement (acute, chronic, hepatitis)
  31. Transaminases
  32. cholestasis
  33. sacral dimple
  34. photophobia or photosensitive defect in light-exposed area
  35. hypotonia
  36. feeding difficulties

OCULOCEREBRORENAL SYNDROME OF LOWE Last update
OCULOCEREBRORENAL SYNDROME OF LOWE
  1. Glucose
  2. Phosphorus, inorganic
  3. Transaminases
  4. Cholesterol
  5. Protein, total, serum
  6. Serum acid phosphatase
  7. Lactate dehydrogenase (LDH)
  8. Creatinine kinase
  9. cataract
  10. glaucoma
  11. microphthalmus
  12. impaired visual acuity
  13. buphthalmus
  14. cryptorchism
  15. cerebral atrophy
  16. hypotonia
  17. mental retardation
  18. behavior, abnormal or bizarre, confusion
  19. Fanconi syndrome
  20. renal failure, acute/chronic
  21. joint swelling
  22. areflexia
  23. onset, newborn
  24. onset, infant
  25. seizures
  26. EEG abnormalities -
  27. MRI, brain, abnormalities -
  28. Amino acids, urine
  29. glucosuria

HYPOTHYROIDISM, CONGENITAL Last update
HYPOTHYROIDISM, CONGENITAL
  1. Thyroid-stimulating hormone (TSH)
  2. Thyroxine (T4)
  3. Triiodthyronine
  4. MRS, brain, abnormalities -
  5. jaundice
  6. feeding difficulties, poor feeding
  7. constipation
  8. hernia
  9. hypothermia
  10. myxedema
  11. mental retardation
  12. motor retardation
  13. cardiomegaly
  14. X-ray, abnormalities
  15. onset, newborn
  16. onset, infant
  17. macroglossia, large/protuding tongue
  18. hearing defect, deafness
  19. ECG abnormalities -
  20. defect of thyroid gland

CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE Last update 09.05.2016_19:59:55
CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE
  1. Steroid sulfatase
  2. nasal hypoplasia
  3. hearing defect, deafness
  4. cataract
  5. ichthyosis
  6. mental retardation
  7. short stature
  8. X-ray, abnormalities

ARTEFACTS-PHARMACEUTICAL PRODUCTS, INTERFERENCE IN AMINOACID AND ORGANIC ACID ANALYSIS DD Last update 06.01.2016_12:02:34
ARTEFACTS-PHARMACEUTICAL PRODUCTS, INTERFERENCE IN AMINOACID AND ORGANIC ACID ANALYSIS DD
  1. 2,3-Butanediol
  2. Glycine
  3. Cyclohexandiol
  4. Propanediol
  5. Amino acids, urine
  6. Amino acids, plasma
  7. Organic acids, urine
  8. 3-Hydroxyisovaleric acid
  9. Methylcitric acid
  10. 3-Hydroxypropionic acid
  11. 3-Methylcrotonylglycine
  12. 5-Oxoproline
  13. Glycerol
  14. Hippuric acid
  15. 2-Aminoadipic acid
  16. Homocysteine
  17. skin biopsy, abnormal
  18. 4-Hydroxybutyric acid
  19. Alanine
  20. Lactate/Pyruvate ratio
  21. 2-Oxoglutaric acid

ARTEFACTS-BACTERIAL CONTAMINATION, EXCRETION OF ORGANIC ACIDS (ARTEFACTS) DD Last update 24.01.2016_18:40:33
ARTEFACTS-BACTERIAL CONTAMINATION, EXCRETION OF ORGANIC ACIDS (ARTEFACTS) DD
  1. Glutaric acid
  2. Lactate
  3. Cresol
  4. 4-Hydroxyphenylacetic acid
  5. 4-Cyclohexanecarboxylate
  6. Tyramine
  7. Hippuric acid
  8. 3-Hydroxypropionic acid
  9. Organic acids, urine
  10. 2-Oxoglutaric acid

CREATINE DEFICIENCY, GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY Last update 08.05.2016_19:43:12
CREATINE DEFICIENCY, GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY
  1. Guanidinoacetate-methyltransferase
  2. Creatinine
  3. motor retardation
  4. extrapyramidal signs
  5. hypotonia
  6. mental retardation
  7. dystonia
  8. progressive neurologic defect
  9. seizures
  10. EEG abnormalities -
  11. MRI, brain, abnormalities -
  12. MRS, brain, abnormalities -
  13. behavior, self-mutilating or destructive
  14. failure to thrive
  15. onset, infant
  16. infections (severe or recurrent)
  17. 3-Methylglutaconic acid
  18. Uric acid
  19. Guanidinoacetate
  20. Creatine
  21. learning disability
  22. ataxia

CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIa Last update 02.01.2016_14:21:38
CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIa
  1. Carbohydrate-deficient transferrins
  2. Transaminases
  3. Tetrasialotransferrin
  4. Disialotransferrin
  5. N-Acetylglukosaminyltransferase II
  6. seizures
  7. growth retardation
  8. onset, newborn
  9. hypotonia
  10. dysmorphism
  11. X-ray, abnormalities
  12. congenital heart defect
  13. behavior, abnormal or bizarre, confusion
  14. motor retardation
  15. mental retardation
  16. Coagulopathy/Coagulation factors
  17. liver involvement (acute, chronic, hepatitis)
  18. diarrhea
  19. short stature
  20. heart involvement
  21. onset, child
  22. kyphoskoliosis
  23. failure to thrive
  24. macrocephaly (large calvaria, >2 SD for age)
  25. microcephaly

HYDROPS FETALIS, NON IMMUNE Last update
HYDROPS FETALIS, NON IMMUNE
  1. edema
  2. heart failure
  3. pleural effusions
  4. peritoneal effusions
  5. early death
  6. hydrops fetalis
  7. large liver
  8. large spleen
  9. anemia

PSEUDONEONATAL ADRENOLEUKODYSTROPHY Last update
PSEUDONEONATAL ADRENOLEUKODYSTROPHY
  1. hypotonia
  2. seizures
  3. nystagmus
  4. hearing defect, deafness
  5. retinitis pigmentosa
  6. optic atrophy
  7. large liver
  8. neurological deterioration
  9. Very-long-chain fatty acids
  10. Very-long-chain fatty acid oxidation
  11. Peroxisomes, liver
  12. Peroxisomal Acyl-CoA oxidase
  13. behavior, autism or autistic-like
  14. dysmorphism
  15. leukoencephalopathy

AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY Last update 24.01.2016_18:37:41
AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY
  1. Aromatic L-amino acid decarboxylase
  2. Dopamine
  3. 3-Methoxytyrosine
  4. 5-Hydroxytryptophan
  5. S-Adenosylmethionine
  6. 5-Hydroxyindolacetic acid
  7. Homovanillic acid
  8. hypotonia
  9. eye movements, abnormal
  10. oculogyric crisis
  11. encephalopathy
  12. Organic acid, spinal fluid
  13. Organic acids, urine
  14. Amino acid, spinal fluid
  15. Amino acids, urine
  16. Amino acids, plasma
  17. onset, infant
  18. mental retardation
  19. motor retardation
  20. speech development, delayed, abnormal
  21. temperature instability
  22. chorea or athetosis
  23. ptosis (drooping eyelid)
  24. cerebral atrophy
  25. MRI, brain, abnormalities -
  26. Adrenaline
  27. Noradrenaline
  28. irritability
  29. pallor
  30. sweating
  31. hypersalivation
  32. 3-Methoxytyramine
  33. feeding difficulties, poor feeding
  34. dystonia
  35. rigor
  36. tremor or twitching
  37. seizures
  38. hypoglycemia
  39. lethargy, drowsiness, malaise or sleep disorder
  40. constipation
  41. diarrhea
  42. L-Dopa
  43. 3-O-methyldopa

HYPERPHENYLALANIEMIA DUE TO GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE DEFICIENCY Last update 02.12.2015_11:21:27
HYPERPHENYLALANIEMIA DUE TO GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE DEFICIENCY
  1. Phenylalanine
  2. 5-Hydroxyindolacetic acid
  3. Homovanillic acid
  4. Guanosine triphosphate cyclohydrolase
  5. Neopterin
  6. Biopterin
  7. % Biopterin
  8. EEG abnormalities -
  9. mental retardation
  10. seizures
  11. hypotonia
  12. hypertonia, spasticity
  13. neurological deterioration
  14. progressive neurologic defect
  15. swallowing difficulties
  16. hyperthermia
  17. lethargy, drowsiness, malaise or sleep disorder
  18. hypersalivation
  19. irritability
  20. microcephaly
  21. feeding difficulties, poor feeding
  22. onset, infant
  23. temperature instability
  24. Tetrahydrobiopterin (BH4) loading test

3-METHYLGLUTACONIC ACIDURIA (TYPE III) Last update 03.01.2016_18:45:50
3-METHYLGLUTACONIC ACIDURIA (TYPE III)
  1. 3-Methylglutaconic acid
  2. 3-Methylglutaric acid
  3. Organic acids, urine
  4. optic atrophy
  5. nystagmus
  6. ataxia
  7. extrapyramidal signs
  8. spastic diplegia/quadriplegia
  9. neurological deterioration
  10. dysarthria
  11. hyperreflexia
  12. onset, infant
  13. chorea or athetosis
  14. mental retardation
  15. speech development, delayed, abnormal
  16. MRI, brain, abnormalities -

ALPORT SYNDROME Last update 24.01.2016_16:34:17
ALPORT SYNDROME
  1. Thrombocytes, Platelets
  2. Erythrocytes
  3. Protein
  4. hearing defect, deafness
  5. nephritis
  6. renal failure, acute/chronic
  7. cataract
  8. ichthyosis
  9. onset, child
  10. onset, adolescent
  11. onset, adult
  12. eye defect beginning in infancy or childhood
  13. leiomyomatosis
  14. hypertension
  15. hematuria
  16. DNA
  17. thrombopenia, thrombocytopenia
  18. proteinuria

EHLERS DANLOS SYNDROME TYPE IX Last update 22.09.2009_15:50:35
EHLERS DANLOS SYNDROME TYPE IX
  1. Copper
  2. Ceruloplasmin
  3. Pyridinoline
  4. Deoxypyrodinoline
  5. mental retardation
  6. diarrhea
  7. behavior, abnormal or bizarre, confusion
  8. decreased muscle volume, atrophy or hypoplasia
  9. X-ray, abnormalities
  10. bladder divertikulae
  11. hydronephrosis
  12. limb abnormalities, limb deformities
  13. hypotension
  14. skin defects
  15. joint hypermobilty, dislocations
  16. arachnodyctyly
  17. crosslinks
  18. cutis laxa
  19. hernia
  20. Lysyl oxidase

MUCOLIPIDOSIS IV Last update
MUCOLIPIDOSIS IV
  1. blindness, visual loss, visual impairment
  2. mental retardation
  3. motor retardation
  4. corneal deposits
  5. corneal clouding
  6. onset, child
  7. onset, infant
  8. onset, newborn
  9. strabismus
  10. hypotonia
  11. photophobia or photosensitive defect in light-exposed area
  12. Electron microscopy -

PYRIDOXINE DEPENDENCY WITH SEIZURES Last update
PYRIDOXINE DEPENDENCY WITH SEIZURES
  1. Glutamic acid decarboxylase
  2. gamma-Aminobutyric acid
  3. Glutamic acid, Glutamate
  4. seizures
  5. onset, newborn
  6. microcephaly
  7. mental retardation
  8. Pipecolic acid
  9. alpha-Aminoadipic semialdehyde

HYPERPHENYLALANINEMIA DUE TO PTERIN-4a-CARBINOLAMINE DEHYDRATASE Last update 03.12.2015_12:42:45
HYPERPHENYLALANINEMIA DUE TO PTERIN-4a-CARBINOLAMINE DEHYDRATASE
  1. Phenylalanine
  2. Neopterin
  3. Biopterin
  4. Primapterin
  5. hypotonia
  6. EEG abnormalities -
  7. hypertonia, spasticity
  8. Tetrahydrobiopterin (BH4) loading test
  9. Magnesium
  10. diabetes mellitus

ADENYLOSUCCINASE DEFICIENCY Last update 27.12.2015_14:26:10
ADENYLOSUCCINASE DEFICIENCY
  1. Adenylosuccinase
  2. Succinylamino-imidazole carboxamide riboside
  3. Succinyladenosine
  4. mental retardation
  5. seizures
  6. behavior, autism or autistic-like
  7. growth retardation
  8. hypertonia, spasticity
  9. dystonia
  10. spastic diplegia/quadriplegia
  11. onset, infant
  12. CT, brain, abnormalities -
  13. encephalopathy
  14. microcephaly
  15. hypotonia
  16. cerebral atrophy
  17. onset, newborn
  18. MRI, brain, abnormalities -
  19. dysmorphism
  20. low set ears
  21. nystagmus
  22. strabismus

PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS Last update
PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS
  1. Bile acids, total
  2. Bilirubin
  3. gamma-Glutamyl transpeptidase
  4. Vitamin A
  5. Vitamin E
  6. Vitamin D2, 25-Hydroxyvitamin D
  7. Phosphatase, alkaline
  8. pruritus
  9. jaundice
  10. nose bleed
  11. onset, infant
  12. cholestasis
  13. liver failure
  14. large liver
  15. cirrhosis or fibrosis of liver
  16. gallstones, cholelithiasis
  17. hepatoma
  18. failure to thrive
  19. rickets
  20. steatorrhea
  21. Coagulopathy/Coagulation factors
  22. Vitamin D
  23. Cholesterol
  24. cholecystitis

HYPERKYNURENINURIA Last update
HYPERKYNURENINURIA
  1. Protein
  2. encephalopathy
  3. hypertonia, spasticity
  4. mental retardation
  5. coma
  6. early death
  7. hearing defect, deafness
  8. motor retardation
  9. unusual odor
  10. tubulopathy
  11. Kynurenine
  12. 3-Hydroxykynurenine
  13. Organic acids, urine

MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) Last update 17.01.2016_12:07:44
MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE)
  1. Transaminases
  2. Protein, total, spinal fluid
  3. liver failure
  4. seizures
  5. motor retardation
  6. mental retardation
  7. microcephaly
  8. optic atrophy
  9. hearing defect, deafness
  10. ataxia
  11. chorea or athetosis
  12. blindness, visual loss, visual impairment
  13. liver involvement (acute, chronic, hepatitis)
  14. myoclonus
  15. onset, child
  16. spastic diplegia/quadriplegia
  17. nystagmus
  18. hypotonia
  19. areflexia
  20. encephalopathy
  21. neurological deterioration
  22. cirrhosis or fibrosis of liver
  23. fetal akinesia/hypokinesia sequence
  24. onset, newborn
  25. onset, adult
  26. Complex I activity
  27. MRS, brain, abnormalities -
  28. MRI, brain, abnormalities -
  29. VER, abnormal -
  30. EEG abnormalities -
  31. 3-Methylglutaconic acid
  32. Lactate
  33. early death
  34. Ethylmalonic acid

RESPIRATORY CHAIN DEFICIENCIES Last update
RESPIRATORY CHAIN DEFICIENCIES
  1. lethargy, drowsiness, malaise or sleep disorder
  2. hypotonia
  3. decreased muscle volume, atrophy or hypoplasia
  4. myopathy
  5. hypertonia, spasticity
  6. large liver
  7. liver involvement (acute, chronic, hepatitis)
  8. cardiomyopathy
  9. tubulopathy
  10. Fanconi syndrome
  11. onset, newborn
  12. mental retardation
  13. motor retardation
  14. ataxia
  15. strokelike episodes
  16. myoclonus
  17. neurological deterioration
  18. encephalopathy
  19. exercise intolerance
  20. pain, muscle
  21. liver failure
  22. renal failure, acute/chronic
  23. vomiting
  24. failure to thrive
  25. diarrhea
  26. pancreatic insufficiency
  27. obstructive airway disease
  28. growth retardation
  29. defect of thyroid gland
  30. defect of adrenal gland or function
  31. hearing defect, deafness
  32. cataract
  33. ptosis (drooping eyelid)
  34. pigmentation, skin and sclera
  35. hair, abnormal (thin, brittle)
  36. onset, infant
  37. onset, child
  38. onset, adolescent
  39. headache (severe, recurrent or occipital, migraine)
  40. hemiparesis/hemiparetic cerebral palsy
  41. cortical or cerebral atrophy
  42. heart involvement
  43. retinitis pigmentosa
  44. cholestasis
  45. pancreatitis
  46. brown colored urine
  47. ECG abnormalities -
  48. Creatinine kinase
  49. Transaminases
  50. Pyruvate, Pyruvic acid
  51. 3-Hydroxybutyrate/Acetoacetate
  52. Lactate/Pyruvate ratio
  53. Complex IV activity
  54. Complex III activity
  55. Complex II activity
  56. Complex I activity
  57. MRI, brain, abnormalities -
  58. neutropenia (decreased neutrophils)
  59. anemia
  60. Insulin
  61. Glucose tolerance, impaired
  62. Glucose
  63. Myoglobin
  64. metabolic acidosis
  65. Ketone bodies
  66. Lactate
  67. hypoglycemia
  68. hyperammonemia
  69. lactic acidosis
  70. ketosis
  71. rhabdomyolysis
  72. Ethylmalonic acid
  73. 3-Methylglutaconic acid

LEBERS HEREDITARY OPTIC NEUROPATHY, LHON Last update
LEBERS HEREDITARY OPTIC NEUROPATHY, LHON
  1. blindness, visual loss, visual impairment
  2. headache (severe, recurrent or occipital, migraine)
  3. onset, adolescent
  4. onset, adult
  5. optic atrophy
  6. onset, child
  7. cardiac arrhythmia, dysrhythmia
  8. ECG abnormalities -

WOLFRAM SYNDROME, DIDMOAD Last update
WOLFRAM SYNDROME, DIDMOAD
  1. optic atrophy
  2. hearing defect, deafness
  3. diabetes insipidus
  4. diabetes mellitus
  5. urinary tract defects
  6. polyuria
  7. polydipsia (increased drinking)
  8. hyperglycemia
  9. ketosis
  10. ataxia
  11. seizures
  12. early death
  13. hydronephrosis
  14. Glucose
  15. psychosis
  16. behavior, abnormal or bizarre, confusion
  17. retinopathy
  18. anemia
  19. Ketone bodies
  20. Osmolality

3-PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY Last update 03.01.2016_20:54:23
3-PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY
  1. Serine
  2. 3-Phosphoglycerate dehydrogenase
  3. Glycine
  4. microcephaly
  5. mental retardation
  6. motor retardation
  7. hypertonia, spasticity
  8. growth retardation
  9. cataract
  10. seizures
  11. feeding difficulties, poor feeding
  12. spastic diplegia/quadriplegia
  13. onset, infant
  14. EEG abnormalities -
  15. MRI, brain, abnormalities -
  16. Amino acid, spinal fluid
  17. Amino acids, plasma

INFECTIONS OF THE NEWBORN (TORCH) DD Last update 14.05.2016_11:08:59
INFECTIONS OF THE NEWBORN (TORCH) DD
  1. cataract
  2. corneal clouding
  3. retinitis pigmentosa
  4. skeletal changes
  5. heart involvement
  6. microcephaly
  7. petechiae
  8. hernia
  9. hydrocephalus
  10. chorioretinitis
  11. eczematoid skin rush
  12. growth retardation
  13. large liver
  14. large spleen
  15. jaundice
  16. myocarditis
  17. glaucoma
  18. hydrops fetalis
  19. prematurity
  20. blindness, visual loss, visual impairment
  21. pneumonia
  22. mental retardation
  23. motor retardation
  24. seizures
  25. failure to thrive
  26. CT, brain, abnormalities -
  27. anemia
  28. thrombopenia, thrombocytopenia

ABETALIPOPROTEINEMIA, BASSEN-KORNZWEIG-SYNDROME, ACANTHOCYTOSIS (ABL) Last update 03.01.2016_21:16:06
ABETALIPOPROTEINEMIA, BASSEN-KORNZWEIG-SYNDROME, ACANTHOCYTOSIS (ABL)
  1. Hemoglobine
  2. Cholesterol
  3. Triglycerides
  4. Apolipoprotein
  5. Vitamin E
  6. Vitamin A
  7. Transaminases
  8. malabsorption
  9. failure to thrive
  10. mental retardation
  11. onset, newborn
  12. ataxia
  13. motor retardation
  14. progressive neurologic defect
  15. defect of deep tendon reflexes
  16. retinitis pigmentosa
  17. night blindness
  18. nystagmus
  19. dysarthria
  20. tremor or twitching
  21. muscle weakness
  22. cardiac arrhythmia, dysrhythmia
  23. cardiomyopathy
  24. peripheral neuropathy
  25. feeding difficulties, poor feeding
  26. vomiting
  27. kyphoskoliosis
  28. liver involvement (acute, chronic, hepatitis)
  29. steatorrhea
  30. anemia
  31. Acanthocytosis
  32. Low-density lipoprotein (LDL)

ALPHA-1-ANTITRYPSIN DEFICIENCY (AATD) Last update 24.01.2016_15:30:07
ALPHA-1-ANTITRYPSIN DEFICIENCY (AATD)
  1. alpha-1-Antitrypsin
  2. emphysema
  3. liver carcinoma
  4. liver involvement (acute, chronic, hepatitis)
  5. cirrhosis or fibrosis of liver
  6. pneumonia
  7. cholestasis
  8. onset, newborn
  9. onset, adolescent
  10. pancreatitis
  11. onset, adult
  12. jaundice
  13. portal hypertension
  14. failure to thrive
  15. gastrointestinal hemorrhage (bleeding)
  16. liver failure
  17. dyspnea
  18. Transaminases
  19. no clinical signs or symptoms

JOUBERT SYNDROME Last update
JOUBERT SYNDROME
  1. no specific laboratory findings
  2. cerebellar atrophy or hypoplasia
  3. tachypnea, hyperpnea, dyspnea, respiratory distress
  4. ultrasound, cranial, abnormalities -
  5. hypotonia
  6. mental retardation
  7. onset, newborn
  8. strabismus
  9. ataxia
  10. athetosis
  11. macroglossia, large/protuding tongue
  12. early death
  13. seizures
  14. dysarthria
  15. eye movements, abnormal
  16. liver involvement (acute, chronic, hepatitis)
  17. cirrhosis or fibrosis of liver
  18. chorioretinal colobomata
  19. large liver
  20. renal cysts
  21. facial nerve palsy
  22. short neck
  23. CT, brain, abnormalities -
  24. MRI, brain, abnormalities -
  25. apnea
  26. retinal or macular degeneration
  27. tremor or twitching
  28. behavior, autism or autistic-like
  29. cleft eyelid (coloboma)
  30. polydactyly
  31. speech development, delayed, abnormal
  32. behavior, abnormal or bizarre, confusion

S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY Last update 01.12.2015_21:11:34
S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY
  1. Methionine
  2. Transaminases
  3. S-Adenosylhomocysteine hydrolase
  4. cholestasis
  5. failure to thrive
  6. mental retardation
  7. onset, newborn
  8. dysmorphism
  9. growth retardation
  10. liver involvement (acute, chronic, hepatitis)
  11. seizures
  12. cardiomyopathy
  13. large liver
  14. jaundice
  15. cerebral atrophy
  16. cardiac involvement
  17. motor retardation
  18. CT, brain, abnormalities -
  19. Glucose
  20. hypotonia
  21. Creatinine kinase
  22. Homocysteine
  23. strabismus
  24. Albumin
  25. MRI, brain, white matter abnormalities -
  26. S-Adenosylmethionine
  27. S-Adenosylhomocysteine
  28. Guanidinoacetate
  29. hair, abnormal (thin, brittle)
  30. feeding difficulties
  31. muscle weakness
  32. myopathy
  33. behavior, abnormal or bizarre, confusion
  34. hydrops fetalis

RETT SYNDROME Last update
RETT SYNDROME
  1. Glutamic acid, Glutamate
  2. Lactate
  3. Orotic acid
  4. Pyruvate, Pyruvic acid
  5. normal at birth
  6. onset, infant
  7. onset, child
  8. microcephaly
  9. seizures
  10. tachypnea, hyperpnea, dyspnea, respiratory distress
  11. ataxia
  12. hand movements, abnormal, stereotyped
  13. hypertonia, spasticity
  14. motor retardation
  15. behavior, autism or autistic-like
  16. speech development, delayed, abnormal
  17. 2-Oxoglutaric acid
  18. respiratory alkalosis
  19. EEG abnormalities -
  20. Amino acid, spinal fluid
  21. cardiac arrhythmia, dysrhythmia
  22. Very-long-chain fatty acids
  23. bone age

VITAMIN E DEFICIENCY (AVED) Last update
VITAMIN E DEFICIENCY (AVED)
  1. Vitamin E
  2. ataxia
  3. areflexia
  4. nystagmus
  5. dysarthria
  6. tremor or twitching
  7. retinopathy
  8. blindness, visual loss, visual impairment
  9. defect of deep tendon reflexes
  10. onset, child
  11. MRI, brain, abnormalities -
  12. xanthoma
  13. dystonia
  14. cardiomyopathy

NEURONAL CEROID LIPOFUSCINOSIS. KUFS DISEASE. BATTEN DISEASE. JANSKY-BIELSCHOWSKY. SPIELMEYER-VOGT. HALTIA-SANTAVUORI Last update
NEURONAL CEROID LIPOFUSCINOSIS. KUFS DISEASE. BATTEN DISEASE. JANSKY-BIELSCHOWSKY. SPIELMEYER-VOGT
  1. ataxia
  2. seizures
  3. onset, infant
  4. onset, child
  5. onset, adolescent
  6. onset, adult
  7. microcephaly
  8. blindness, visual loss, visual impairment
  9. mental retardation
  10. motor retardation
  11. retinopathy
  12. myoclonus
  13. cerebellar atrophy or hypoplasia
  14. cerebral atrophy
  15. early death
  16. pyramidal signs
  17. psychosis
  18. dementia
  19. lethargy, drowsiness, malaise or sleep disorder
  20. irritability
  21. chorea or athetosis
  22. behavior, hyperactive, restless
  23. dysarthria
  24. dystonia
  25. tremor or twitching
  26. optic atrophy
  27. skin biopsy, abnormal
  28. Lymphocytes, vacuoles
  29. conjunctival biopsy, abnormal
  30. MRI, brain, abnormalities -
  31. CT, brain, abnormalities -
  32. EEG abnormalities -

FRIEDREICH ATAXIA Last update 22.09.2009_16:25:22
FRIEDREICH ATAXIA
  1. ataxia
  2. areflexia
  3. dysarthria
  4. hearing defect, deafness
  5. muscle weakness
  6. optic atrophy
  7. onset, child
  8. onset, adolescent
  9. peripheral neuropathy
  10. defect of walking, running, rising or climbing
  11. skeletal changes
  12. diabetes mellitus
  13. kyphoskoliosis
  14. cardiomyopathy
  15. nystagmus
  16. ECG abnormalities -
  17. Glucose tolerance, impaired

ACATALASEMIA Last update 03.01.2016_21:06:23
ACATALASEMIA
  1. Catalase
  2. no clinical signs or symptoms
  3. oral infections, gangrene
  4. methemoglobinemia

PELIZAEUS MERZBACHER DISEASE Last update
PELIZAEUS MERZBACHER DISEASE
  1. onset, infant
  2. nystagmus
  3. hypotonia
  4. chorea or athetosis
  5. optic atrophy
  6. motor retardation
  7. ataxia
  8. progressive neurologic defect
  9. onset, newborn
  10. onset, child
  11. fasiculations
  12. eye movements, abnormal
  13. hypertonia, spasticity
  14. EMG abnormalities -
  15. MRI, brain, abnormalities -
  16. N-Acetylaspartylglutamate

INTOXICATION ACETAMINOPHEN DD Last update 14.05.2016_11:07:39
INTOXICATION ACETAMINOPHEN DD
  1. 5-Oxoproline
  2. Long chain dicarboxylic acids
  3. nausea
  4. vomiting
  5. pallor
  6. pain, abdominal
  7. liver involvement (acute, chronic, hepatitis)
  8. Transaminases
  9. Bilirubin
  10. renal failure, acute/chronic
  11. liver failure

TRIOSEPHOSPHATE ISOMERASE Last update
TRIOSEPHOSPHATE ISOMERASE
  1. anemia
  2. hemolysis
  3. early death
  4. dystonia
  5. hypertonia, spasticity
  6. progressive neurologic defect
  7. Dihydroxyacetone-phosphate
  8. Triosephosphate isomerase
  9. cardiomyopathy
  10. onset, infant
  11. peripheral neuropathy

SEGAWA SYNDROME Last update 13.02.2016_15:55:55
SEGAWA SYNDROME
  1. Homovanillic acid
  2. Guanosine triphosphate cyclohydrolase
  3. dystonia
  4. onset, child
  5. onset, adolescent
  6. tremor or twitching
  7. defect of walking, running, rising or climbing
  8. progressive neurologic defect
  9. foot deformities
  10. Parkinsonism
  11. Biopterin
  12. Neopterin
  13. hypertonia, spasticity
  14. hypotonia
  15. Phenylalanine
  16. hypersalivation
  17. microcephaly

VERY-LONG-CHAIN ACYL CoA DEHYDROGENASE DEFICIENCY (VLCAD) Last update
VERY-LONG-CHAIN ACYL CoA DEHYDROGENASE DEFICIENCY (VLCAD)
  1. Glucose
  2. Long chain acyl carnitines
  3. Dicarboxylic acids, urine
  4. Carnitine
  5. Creatinine kinase
  6. pH
  7. Tetradecenoic acid
  8. Adipic acid
  9. Suberic acid
  10. 3-Hydroxyadipic acid
  11. metabolic acidosis
  12. Very-long-chain acyl-CoA dehydrogenase
  13. cardiomyopathy
  14. early death
  15. cardiac arrest
  16. encephalopathy
  17. pericardial effusion
  18. steatorrhea
  19. onset, infant
  20. coma
  21. muscle weakness
  22. onset, newborn
  23. respiratory insufficiency
  24. hypoglycemia
  25. onset, child
  26. onset, adult
  27. rhabdomyolysis
  28. pain, muscle
  29. large liver
  30. hypotonia
  31. Myoglobin
  32. Tetradecenoylcarnitine (C14:1)
  33. Tetradecadienoylcarnitine (C14:2)
  34. Tetradecanoylcarnitine (C14)
  35. Palmitoylcarnitine (C16)
  36. Oleoylcarnitine (C18:1)

SHORT-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (SCHAD) Last update
SHORT-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (SCHAD)
  1. Short-chain 3-hydroxyacyl-CoA dehydrogenase
  2. Adipic acid
  3. Suberic acid
  4. Sebacic acid
  5. 3-Hydroxybutyric acid
  6. 3-Hydroxydodecanedioic acid
  7. Ketone bodies
  8. Glucose
  9. Myoglobin
  10. Dicarboxylic acids, urine
  11. Transaminases
  12. Organic acids, urine
  13. Creatinine kinase
  14. cardiomyopathy
  15. muscle weakness
  16. encephalopathy
  17. vomiting
  18. onset, child
  19. brown colored urine
  20. hypoglycemia
  21. ketosis

METHIONINE MALABSORPTION Last update
METHIONINE MALABSORPTION
  1. EEG abnormalities -
  2. 2-Hydroxybutyric acid
  3. oast-house odor
  4. seizures
  5. mental retardation
  6. fair (white) hair
  7. diarrhea
  8. onset, infant
  9. tachypnea, hyperpnea, dyspnea, respiratory distress
  10. blue eyes
  11. 2-Oxobutyric acid

HYPERPHOSPHATASIA Last update
HYPERPHOSPHATASIA
  1. Uric acid
  2. Phosphatase, alkaline
  3. Hydroxyproline
  4. short neck
  5. pain, bones
  6. bone fractures
  7. short stature
  8. muscle weakness
  9. onset, child
  10. skeletal changes
  11. limb abnormalities, limb deformities
  12. X-ray, abnormalities
  13. hearing defect, deafness
  14. Phosphoethanolamine

FARBER DISEASE Last update 22.09.2009_16:21:24
FARBER DISEASE
  1. Acid ceramidase
  2. hydrops fetalis
  3. onset, newborn
  4. onset, infant
  5. hoarse cry
  6. irritability
  7. motor retardation
  8. mental retardation
  9. early death
  10. joint swelling
  11. large liver
  12. nodules, subcutaneous
  13. cherry-red spot on retinal macula
  14. jaundice
  15. large spleen
  16. liver involvement (acute, chronic, hepatitis)
  17. pain, bones

DUCHENNE MUSCULAR DYSTROPHY Last update
DUCHENNE MUSCULAR DYSTROPHY
  1. Creatinine kinase
  2. onset, child
  3. myopathy
  4. muscle weakness
  5. cardiomyopathy

SEPSIS, NEONATAL DD Last update 14.05.2016_11:02:27
SEPSIS, NEONATAL DD
  1. hypothermia
  2. fever
  3. thrombopenia, thrombocytopenia
  4. metabolic acidosis
  5. CRP
  6. onset, newborn
  7. tachypnea, hyperpnea, dyspnea, respiratory distress
  8. respiratory distress
  9. seizures
  10. neutropenia (decreased neutrophils)
  11. Thrombocytes, Platelets
  12. apnea
  13. hypoglycemia
  14. hypotonia
  15. vomiting
  16. large liver
  17. jaundice
  18. petechiae
  19. lactic acidosis
  20. Lactate

ADENOSINE DEAMINASE (ADA) Last update 01.12.2015_21:29:45
ADENOSINE DEAMINASE (ADA)
  1. diarrhea
  2. vomiting
  3. infections (severe or recurrent)
  4. onset, newborn
  5. onset, infant
  6. onset, child
  7. Lymphocytes
  8. failure to thrive
  9. bronchiectasia
  10. pulmonary alveolar proteinosis
  11. Adenosine
  12. Glutamine
  13. Homocystine
  14. Methionine
  15. 2-Deoxyadenosine

PURINE NUCLEOSIDE PHOSPHORYLASE DIFICIENCY Last update
PURINE NUCLEOSIDE PHOSPHORYLASE DIFICIENCY
  1. Uric acid
  2. mental retardation
  3. spastic diplegia/quadriplegia
  4. hypertonia, spasticity
  5. hypotonia
  6. infections (severe or recurrent)
  7. anemia
  8. onset, infant
  9. onset, child
  10. onset, newborn
  11. lymphopenia
  12. Nucleoside phosphorylase
  13. tremor or twitching
  14. Orotic acid
  15. failure to thrive
  16. ataxia
  17. behavior, abnormal or bizarre, confusion
  18. Inosine
  19. Guanosine
  20. Deoxyinosine
  21. Deoxyguanosine

CONGENITAL ALVEOLAR PROTEINOSIS Last update 05.05.2016_11:42:07
CONGENITAL ALVEOLAR PROTEINOSIS
  1. onset, newborn
  2. respiratory distress
  3. respiratory insufficiency
  4. early death
  5. tachypnea, hyperpnea, dyspnea, respiratory distress
  6. respiratory acidosis
  7. pH
  8. pCO2
  9. failure to thrive

ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY (APRT) Last update 17.01.2016_21:39:14
ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY (APRT)
  1. renal failure, acute/chronic
  2. hematuria
  3. infections (urinary tract)
  4. onset, child
  5. onset, newborn
  6. pain, abdominal
  7. urolithiasis
  8. 2,8-Dihydroxyadenine
  9. kidney stones
  10. yellow-brown urine crystals
  11. no clinical signs or symptoms

RESPIRATORY DISTRESS SYNDROME, HYALINE MEMBRANE DISEASE DD Last update 14.05.2016_11:01:56
RESPIRATORY DISTRESS SYNDROME, HYALINE MEMBRANE DISEASE DD
  1. tachypnea, hyperpnea, dyspnea, respiratory distress
  2. respiratory insufficiency
  3. respiratory acidosis
  4. pH
  5. pCO2
  6. X-ray, abnormalities
  7. onset, newborn

ASPHYXIA DD Last update 14.05.2016_10:59:26
ASPHYXIA DD
  1. Malondialdehyde
  2. ultrasound, cranial, abnormalities -
  3. MRI, brain, abnormalities -
  4. EEG abnormalities -
  5. Insulin
  6. hyperinsulinism
  7. encephalopathy
  8. bleeding tendencies, hemorrhages
  9. seizures
  10. hypotonia
  11. hypertonia, spasticity
  12. coma
  13. renal failure, acute/chronic
  14. respiratory distress
  15. hypoglycemia
  16. lactic acidosis
  17. adrenal insufficiency
  18. Sodium
  19. Calcium
  20. Glucose
  21. Creatinine kinase
  22. Myoglobin
  23. onset, fetus
  24. onset, newborn
  25. Lactate
  26. metabolic acidosis
  27. pH
  28. Lactate dehydrogenase (LDH)
  29. Hypoxanthine
  30. Carnitine
  31. 3-Hydroxybutyric acid
  32. 4-Hydroxyphenyllactic acid
  33. 3-Methoxy-4-hydroxymandelic acid
  34. 2-Hydroxybutyric acid
  35. 2-Oxoisocaproic acid
  36. 2-Hydroxyisovaleric acid
  37. 2-Oxo-3-methylvaleric acid
  38. Uric acid
  39. Uric acid/creatinine
  40. Lactate/Creatinine ratio
  41. S100B protein
  42. Neuron Specific Enolase (NSE)
  43. Erythropoietin
  44. Homogentisic acid

PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY Last update
PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY
  1. ataxia
  2. hearing defect, deafness
  3. urolithiasis
  4. gout
  5. dysmorphism
  6. Uric acid
  7. onset, infant
  8. onset, child
  9. renal failure, acute/chronic
  10. motor retardation

DIHYDROPYRIMIDINASE (DHPA) Last update
DIHYDROPYRIMIDINASE (DHPA)
  1. seizures
  2. metabolic acidosis
  3. feeding difficulties, poor feeding
  4. Uracil
  5. Thymine
  6. Dihydrouracil
  7. Dihydrothymine
  8. onset, infant
  9. Uric acid
  10. Tyramine

ACRODERMATITIS ENTEROHEPATHICA Last update 17.01.2016_22:26:52
ACRODERMATITIS ENTEROHEPATHICA
  1. onset, child
  2. onset, infant
  3. failure to thrive
  4. irritability
  5. diarrhea
  6. alopecia
  7. Zinc
  8. skin rushes
  9. stomatitis
  10. infections (local, abscesses)
  11. anorexia
  12. photophobia or photosensitive defect in light-exposed area
  13. conjunctivitis
  14. Ammonia
  15. hyperammonemia
  16. blepharitis
  17. Phosphatase, alkaline
  18. lethargy, drowsiness, malaise or sleep disorder
  19. tremor or twitching
  20. nystagmus
  21. growth retardation
  22. ataxia
  23. night blindness
  24. large liver
  25. large spleen
  26. short stature

PRIMARY HYPOMAGNESEMIA Last update
PRIMARY HYPOMAGNESEMIA
  1. onset, newborn
  2. behavior, hyperactive, restless
  3. onset, infant
  4. irritability
  5. feeding difficulties, poor feeding
  6. tetany
  7. seizures
  8. Magnesium
  9. Calcium
  10. hypotonia
  11. Phosphorus, inorganic
  12. edema
  13. diarrhea
  14. Albumin
  15. tremor or twitching
  16. stridor
  17. opisthotonus
  18. muscle weakness
  19. nephrocalcinosis
  20. hearing defect, deafness
  21. renal failure, acute/chronic
  22. corneal deposits
  23. chorioretinitis

HYPERZINCAEMIA AND HYPERCALPROTECTINAEMIA Last update 24.01.2016_17:06:40
HYPERZINCAEMIA AND HYPERCALPROTECTINAEMIA
  1. Zinc
  2. anemia
  3. infections (severe or recurrent)
  4. large liver
  5. large spleen
  6. Calprotectin
  7. growth retardation
  8. Leucocytes
  9. muscle atrophy

ACUTE INTERMITTEND PORPHYRIA (AIP) Last update 17.01.2016_21:19:41
ACUTE INTERMITTEND PORPHYRIA (AIP)
  1. pain, abdominal
  2. onset, adolescent
  3. vomiting
  4. nausea
  5. tachykardia
  6. red colored urine
  7. hypertension
  8. Sodium
  9. Delta-aminolevulinic acid
  10. fever
  11. sweating
  12. tremor or twitching
  13. Porphobilinogen
  14. Porphyrins
  15. constipation
  16. hypotonia
  17. muscle weakness
  18. seizures
  19. respiratory insufficiency
  20. psychosis
  21. obstipation
  22. hyperaesthesia
  23. Magnesium
  24. diarrhea
  25. syndrome of inappropriate antidiuretic hormone (SIADH)

DELTA-AMINOLEVULINIC ACID DEHYDRATASE-DEFICIENT PORPHYRIA (ALAD) Last update
DELTA-AMINOLEVULINIC ACID DEHYDRATASE-DEFICIENT PORPHYRIA (ALAD)
  1. vomiting
  2. pain, muscle
  3. Delta-aminolevulinic acid
  4. pain, abdominal
  5. nausea
  6. peripheral neuropathy
  7. anemia
  8. large liver
  9. large spleen
  10. failure to thrive
  11. Porphyrins
  12. Delta-aminolevulinic acid dehydratase
  13. onset, newborn
  14. onset, infant
  15. ileus

PYRUVATE DEHYDROGENASE DEFICIENCY (E2) Last update
PYRUVATE DEHYDROGENASE DEFICIENCY (E2)
  1. lactic acidosis
  2. hyperammonemia
  3. microcephaly
  4. mental retardation
  5. motor retardation
  6. Ammonia
  7. Lactate
  8. onset, newborn

CONGENITAL ERYTHTOPOIETIC PORPHYRIA (CEP, GUNTHER DISEASE) Last update 05.05.2016_12:14:24
CONGENITAL ERYTHTOPOIETIC PORPHYRIA (CEP, GUNTHER DISEASE)
  1. skin defects
  2. anemia
  3. large spleen
  4. red colored urine
  5. Porphyrins
  6. onset, newborn
  7. onset, infant
  8. photophobia or photosensitive defect in light-exposed area
  9. hemolysis
  10. hypertrichosis
  11. alopecia
  12. erythrodontia
  13. gallstones, cholelithiasis
  14. bone fractures
  15. Uroporphyrinogen III cosynthase
  16. hyperpigmentation
  17. hypopigmentation
  18. short stature
  19. conjunctivitis
  20. thrombopenia, thrombocytopenia

HEPATOERYTHROPOIETIC PROPHYRIA (HEP) Last update
HEPATOERYTHROPOIETIC PROPHYRIA (HEP)
  1. onset, child
  2. red colored urine
  3. photophobia or photosensitive defect in light-exposed area
  4. skin defects
  5. large spleen
  6. anemia
  7. Porphyrins
  8. Uroporphyrinogen decarboxylase
  9. erythrodontia
  10. hypertrichosis
  11. onset, infant
  12. onset, adult

PORPHYRIA CUTANEA TARDA Last update
PORPHYRIA CUTANEA TARDA
  1. skin defects
  2. liver involvement (acute, chronic, hepatitis)
  3. red colored urine
  4. Porphyrins
  5. hypertrichosis
  6. Uroporphyrinogen decarboxylase
  7. hypopigmentation
  8. onset, child

HEREDITARY COPROPORPHYRIA (HCP) Last update
HEREDITARY COPROPORPHYRIA (HCP)
  1. pain, abdominal
  2. nausea
  3. vomiting
  4. ileus
  5. peripheral neuropathy
  6. hypertension
  7. tachykardia
  8. Sodium
  9. skin defects
  10. red colored urine
  11. Porphyrins

VARIEGATE PORPHYRIA Last update
VARIEGATE PORPHYRIA
  1. pain, abdominal
  2. nausea
  3. vomiting
  4. ileus
  5. peripheral neuropathy
  6. hypertension
  7. Sodium
  8. skin defects
  9. red colored urine
  10. Porphyrins
  11. Porphobilinogen
  12. Delta-aminolevulinic acid

ERYTHROPOIETIC PROTOPORHYRIA Last update 22.09.2009_15:41:21
ERYTHROPOIETIC PROTOPORHYRIA
  1. photophobia or photosensitive defect in light-exposed area
  2. liver failure
  3. Porphyrins
  4. onset, child
  5. gallstones, cholelithiasis

SOTOS SYNDROME Last update
SOTOS SYNDROME
  1. dysmorphism
  2. prominent forehead
  3. downward slanting fissure (antimongoloid slant)
  4. high arched palate
  5. hypertelorism
  6. mental retardation
  7. strabismus
  8. seizures
  9. Amino acids, plasma
  10. CT, brain, abnormalities -
  11. MRI, brain, abnormalities -
  12. EEG abnormalities -
  13. large hands/feet
  14. birthweight high (large for gestational age)
  15. macrocephaly (large calvaria, >2 SD for age)
  16. dermatoglyphic abnormalities
  17. Glycine/valine ratio
  18. hyperopia
  19. nystagmus

HYPERLYSINEMIA II OR SACCHAROPINURIA Last update
HYPERLYSINEMIA II OR SACCHAROPINURIA
  1. Saccharopine
  2. Lysine
  3. Citrulline
  4. onset, adult
  5. EEG abnormalities -
  6. mental retardation
  7. growth retardation

TRYPTOPHANURIA Last update
TRYPTOPHANURIA
  1. Tryptophan
  2. Kynurenine
  3. photophobia or photosensitive defect in light-exposed area
  4. ataxia
  5. mental retardation
  6. motor retardation
  7. hypertonia, spasticity
  8. growth retardation
  9. hearing defect, deafness
  10. blindness, visual loss, visual impairment
  11. speech development, delayed, abnormal

3-HYDROXYDICARBOXYLIC ACIDURIA Last update 02.12.2015_17:29:19
3-HYDROXYDICARBOXYLIC ACIDURIA
  1. cardiomyopathy
  2. liver failure
  3. early death

HYDROXYKYNURENINURIA Last update
HYDROXYKYNURENINURIA
  1. stomatitis
  2. mental retardation
  3. 3-Hydroxykynurenine
  4. Kynurenine
  5. diarrhea
  6. large liver
  7. large spleen
  8. hearing defect, deafness
  9. headache (severe, recurrent or occipital, migraine)
  10. photophobia or photosensitive defect in light-exposed area
  11. anemia
  12. Ferric chloride reaction
  13. Xanthurenic acid

LIPOID ADRENAL HYPERPLASIA (StAR DEFICIENCY) Last update
LIPOID ADRENAL HYPERPLASIA (StAR DEFICIENCY)
  1. dehydration
  2. metabolic alkalosis
  3. Potassium
  4. Sodium
  5. Adrenocorticotropic hormone (ACTH)
  6. vomiting
  7. genitalia, ambigous
  8. early death
  9. hypospadia
  10. Steroids
  11. testes, undescended
  12. 17-Hydroxy-Progesteron
  13. Dehydroepiandrosterone (DHEA)
  14. Androstendione
  15. Deoxycorticosterone (DOC)
  16. Corticosterone
  17. Cortisol

AROMATASE DEFICIENCY Last update 24.01.2016_18:25:10
AROMATASE DEFICIENCY
  1. genitalia, ambigous
  2. tall stature
  3. acne
  4. gynecomastia
  5. Estradiol
  6. polycystic ovaries
  7. amennorrhea
  8. sexual infantilism
  9. virilisation
  10. Testosterone
  11. Androstendione
  12. Luteinizing hormone (LH)
  13. Follicle stimulating hormone (FSH)
  14. obesity

SIALIDOSIS TYPE I Last update
SIALIDOSIS TYPE I
  1. Sialyloligosaccharides
  2. alpha-Neuraminidase
  3. ataxia
  4. blindness, visual loss, visual impairment
  5. cherry-red spot on retinal macula
  6. Lymphocytes, vacuoles
  7. mental retardation
  8. myoclonus
  9. night blindness
  10. onset, adolescent
  11. onset, adult
  12. onset, child
  13. seizures
  14. hypotonia
  15. lens opacities
  16. progressive neurologic defect
  17. pyramidal signs
  18. hyperreflexia
  19. dysarthria
  20. nystagmus

CRIGLER-NAJJAR SYNDROME TYPE I Last update 11.05.2016_20:08:34
CRIGLER-NAJJAR SYNDROME TYPE I
  1. jaundice
  2. onset, newborn
  3. Bilirubin
  4. kernicterus
  5. stool color
  6. UDP-glucuronyltransferase
  7. early death

CRIGLER-NAJJAR SYNDROME TYPE II Last update 11.05.2016_20:14:17
CRIGLER-NAJJAR SYNDROME TYPE II
  1. jaundice
  2. Bilirubin
  3. stool color
  4. kernicterus
  5. UDP-glucuronyltransferase
  6. onset, newborn
  7. onset, child

MITOCHONDRIAL DNA DEPLETION SYNDROME 3 Last update 06.12.2015_21:01:26
MITOCHONDRIAL DNA DEPLETION SYNDROME 3
  1. early death
  2. onset, newborn
  3. onset, infant
  4. liver involvement (acute, chronic, hepatitis)
  5. liver failure
  6. cholestasis
  7. hypoglycemia
  8. cataract
  9. feeding difficulties, poor feeding
  10. lactic acidosis
  11. edema
  12. hypotonia
  13. encephalopathy
  14. muscle weakness
  15. failure to thrive
  16. ataxia
  17. Dicarboxylic acids, urine
  18. myopathy, ragged red fibers
  19. peripheral neuropathy
  20. myoclonus
  21. Creatinine kinase
  22. Transaminases
  23. Lactate

GLUT-1 DEFICIENCY SYNDROME Last update 05.07.2013_10:43:01
GLUT-1 DEFICIENCY SYNDROME
  1. hypoglycorrachia
  2. Glucose
  3. microcephaly
  4. seizures
  5. mental retardation
  6. hypotonia
  7. ataxia
  8. EEG abnormalities -
  9. Lactate
  10. dystonia
  11. learning disability

FANCONI-BICKEL SYNDROME Last update 22.09.2009_16:19:31
FANCONI-BICKEL SYNDROME
  1. hypoglycemia
  2. hyperglycemia
  3. large liver
  4. growth retardation
  5. feeding difficulties, poor feeding
  6. osteodystrophy, renal
  7. mental retardation
  8. Fanconi syndrome
  9. aminoaciduria, generalized
  10. glucosuria
  11. Phosphatase, alkaline
  12. Phosphorus, inorganic
  13. metabolic acidosis
  14. Potassium
  15. onset, infant
  16. rickets
  17. vomiting
  18. fever
  19. dwarfism
  20. prominent abdomen
  21. bone fractures
  22. pancreatitis
  23. Calcium
  24. Uric acid
  25. Galactose
  26. Albumin

2,4-DIENOYL-CoA REDUCTASE DEFICIENCY Last update 02.12.2015_15:46:56
2,4-DIENOYL-CoA REDUCTASE DEFICIENCY
  1. hypotonia
  2. respiratory acidosis
  3. Lysine
  4. Carnitine
  5. Decadienoylcarnitine (C10:2)
  6. dysmorphism
  7. microcephaly
  8. feeding difficulties, poor feeding
  9. vomiting
  10. early death
  11. onset, newborn
  12. failure to thrive
  13. nystagmus
  14. blindness, visual loss, visual impairment
  15. encephalopathy
  16. seizures
  17. dystonia
  18. Lactate

LEUKOTRIENE C4-SYNTHESIS DEFICIENCY Last update
LEUKOTRIENE C4-SYNTHESIS DEFICIENCY
  1. onset, infant
  2. hypotonia
  3. failure to thrive
  4. early death
  5. microcephaly
  6. mental retardation
  7. motor retardation
  8. Cysteinyl leukotrienes (LTC4, LTD4, LTE4)
  9. progressive neurologic defect

TYROSINE HYDROXYLASE DEFICIENCY Last update 13.02.2016_15:58:01
TYROSINE HYDROXYLASE DEFICIENCY
  1. onset, infant
  2. hypotonia
  3. muscular rigidity
  4. dystonia
  5. microcephaly
  6. ptosis (drooping eyelid)
  7. Homovanillic acid
  8. Parkinsonism
  9. tremor or twitching
  10. oculogyric crisis
  11. feeding difficulties
  12. hypersalivation
  13. irritability
  14. seizures
  15. Dopamine
  16. 3-Methoxy-4-hydroxymandelic acid
  17. onset, child
  18. onset, newborn

HYPOPHOSPHATASIA Last update
HYPOPHOSPHATASIA
  1. Phosphoethanolamine
  2. Phosphatase, alkaline
  3. rickets
  4. pain, muscle
  5. muscle weakness
  6. failure to thrive
  7. seizures
  8. pigmentation, skin and sclera
  9. hypotonia
  10. Osteocalcin

CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIb Last update 02.01.2016_14:36:37
CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIb
  1. infantile spasms
  2. skin, pigmentation
  3. mental retardation
  4. motor retardation
  5. hypotonia
  6. dysmorphism
  7. liver involvement (acute, chronic, hepatitis)
  8. Coagulopathy/Coagulation factors
  9. seizures
  10. skeletal changes
  11. onset, infant
  12. Sialotransferrins (isoelectrofocussing)
  13. optic atrophy
  14. hearing defect, deafness
  15. large liver
  16. feeding difficulties
  17. bone fractures
  18. cerebral atrophy
  19. Oligosaccharides
  20. Immunoglobulines

CONGENITAL DISORDER OF GLYCOSYLATION CDG-Id Last update 18.12.2015_20:50:58
CONGENITAL DISORDER OF GLYCOSYLATION CDG-Id
  1. microcephaly
  2. seizures
  3. cerebellar atrophy or hypoplasia
  4. optic atrophy
  5. chorioretinal colobomata
  6. high arched palate
  7. EEG abnormalities -
  8. mental retardation
  9. motor retardation
  10. Transferrin
  11. dysmorphism
  12. hypoglycemia
  13. encephalopathy
  14. hypotonia
  15. failure to thrive

CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ic Last update 18.12.2015_20:29:06
CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ic
  1. onset, infant
  2. hypotonia
  3. ataxia
  4. mental retardation
  5. motor retardation
  6. seizures
  7. infections (severe or recurrent)
  8. hyperopia
  9. retinal or macular degeneration
  10. MRI, brain, abnormalities -
  11. cerebellar atrophy or hypoplasia
  12. Coagulopathy/Coagulation factors
  13. enteropathy, protein-loosing
  14. strabismus
  15. Transferrin
  16. Transaminases
  17. failure to thrive
  18. large liver
  19. thromboembolism

DOPAMINE BETA-HYDROXYLASE DEFICIENCY (DHB) Last update 03.12.2015_12:41:56
DOPAMINE BETA-HYDROXYLASE DEFICIENCY (DHB)
  1. hypotension
  2. ptosis (drooping eyelid)
  3. hypotonia
  4. hypoglycemia
  5. hypothermia
  6. seizures
  7. Dopamine
  8. Adrenaline
  9. Noradrenaline
  10. nasal stuffiness
  11. delay in opening eyes (postnatal)
  12. enuresis nocturna
  13. 3-Methoxy-4-hydroxymandelic acid
  14. Homovanillic acid

MONOAMINE OXIDASE-A DEFICIENCY (MAO-A) Last update
MONOAMINE OXIDASE-A DEFICIENCY (MAO-A)
  1. mental retardation
  2. behavior, self-mutilating or destructive
  3. hand movements, abnormal, stereotyped
  4. 3-Methoxytyramine
  5. Serotonine
  6. Tyramine
  7. Homovanillic acid
  8. 3-Methoxy-4-hydroxymandelic acid
  9. 5-Hydroxyindolacetic acid
  10. 3-Methoxy-4-hydroxyphenylglycol

NARP SYNDROME Last update
NARP SYNDROME
  1. early death
  2. retinitis pigmentosa
  3. ataxia
  4. peripheral neuropathy
  5. muscle weakness
  6. seizures
  7. dementia
  8. mental retardation
  9. apnea
  10. encephalopathy
  11. Citrulline
  12. blindness, visual loss, visual impairment

CITRULLINEMIA TYPE II, ADULT-ONSET Last update 16.05.2016_17:12:28
CITRULLINEMIA TYPE II, ADULT-ONSET
  1. onset, adult
  2. vomiting
  3. diarrhea
  4. sweating
  5. tremor or twitching
  6. lethargy, drowsiness, malaise or sleep disorder
  7. Citrulline
  8. enuresis nocturna
  9. seizures
  10. behavior, abnormal or bizarre, confusion
  11. psychosis
  12. behavior, hyperactive, restless
  13. coma
  14. MRI, brain, abnormalities -
  15. Ammonia
  16. hyperammonemia
  17. encephalopathy
  18. onset, adolescent
  19. Argininosuccinate
  20. liver, fatty
  21. liver involvement (acute, chronic, hepatitis)

PENDRED SYNDROME (PDS) Last update
PENDRED SYNDROME (PDS)
  1. goiter
  2. hypothyroidism
  3. hearing defect, deafness
  4. Thyroid-stimulating hormone (TSH)
  5. short stature
  6. edema
  7. contractures, joints

HYPER-IgD SYNDROME Last update
HYPER-IgD SYNDROME
  1. Cysteinyl leukotrienes (LTC4, LTD4, LTE4)
  2. fever
  3. Mevalonic acid
  4. skin rushes
  5. Mevalonate kinase
  6. headache (severe, recurrent or occipital, migraine)
  7. diarrhea
  8. Immunoglobulines
  9. arthralgia
  10. amyloidosis
  11. arthritis
  12. vomiting
  13. pain, abdominal
  14. large spleen
  15. Tumor necrosis factor alpha (TNF alpha)

DOPA-RESPONSIVE DYSTONIA Last update 03.12.2015_12:38:07
DOPA-RESPONSIVE DYSTONIA
  1. dystonia
  2. Parkinsonism
  3. muscular rigidity
  4. Homovanillic acid
  5. 5-Hydroxyindolacetic acid
  6. Neopterin
  7. hypertonia, spasticity
  8. hypotonia
  9. hyperthermia
  10. seizures
  11. mental retardation
  12. tremor or twitching
  13. dysphagia
  14. scoliosis
  15. Biopterin
  16. Phenylalanine (Phe) loading test
  17. diurnal fluctuation of symptom
  18. hypokinesia

UREIDOPROPIONASE DEFICIENCY Last update
UREIDOPROPIONASE DEFICIENCY
  1. mental retardation
  2. dystonia
  3. onset, newborn
  4. MRS, brain, abnormalities -
  5. hypotonia
  6. beta-Ureidopropionate
  7. scoliosis
  8. beta-Ureidoisobutyrate
  9. optic atrophy
  10. Dihydrothymine
  11. Dihydrouracil

PROLIDASE DEFICIENCY Last update
PROLIDASE DEFICIENCY
  1. ptosis (drooping eyelid)
  2. recurrent or intermittent skin defect
  3. dysmorphism
  4. infections (severe or recurrent)
  5. large spleen
  6. anemia
  7. mental retardation
  8. Imidodipeptides
  9. Immunoglobulines
  10. short stature
  11. teleangiectasia
  12. onset, child
  13. onset, adolescent
  14. Prolidase

11-BETA-HYDROXYLASE DEFICIENCY (CYP11B1) Last update 06.12.2015_11:32:21
11-BETA-HYDROXYLASE DEFICIENCY (CYP11B1)
  1. 11-beta-Hydroxylase
  2. 11-Deoxycortisol
  3. 11-Deoxycorticosterone
  4. Tetrahydro-11-deoxycortisol
  5. Tetrahydro-11-deoxycorticosterone
  6. Adrenocorticotropic hormone (ACTH)
  7. hypertension
  8. genitalia, ambigous
  9. masculinisation of the female
  10. gynecomastia
  11. onset, infant
  12. onset, newborn
  13. virilisation
  14. Potassium
  15. Sodium
  16. failure to thrive
  17. renal failure, acute/chronic
  18. growth retardation

HYPERINSULINISM-HYPERAMMONEMIA SYNDROME Last update
HYPERINSULINISM-HYPERAMMONEMIA SYNDROME
  1. hypoglycemia
  2. onset, infant
  3. onset, child
  4. onset, adult
  5. coma
  6. hyperammonemia
  7. seizures
  8. Ammonia
  9. Glutamate dehydrogenase
  10. Glutamine/Ammonia
  11. 2-Oxoglutaric acid

PATENT DUCTUS VENOSUS Last update
PATENT DUCTUS VENOSUS
  1. Ammonia
  2. Bile acids, total
  3. onset, newborn
  4. liver involvement (acute, chronic, hepatitis)
  5. encephalopathy
  6. Galactose
  7. hyperammonemia

LONG-CHAIN FATTY ACIDS, DEFECT IN TRANSPORT OF Last update
LONG-CHAIN FATTY ACIDS, DEFECT IN TRANSPORT OF
  1. onset, child
  2. onset, infant
  3. liver failure
  4. encephalopathy

ACERULOPLASMINEMIA Last update 17.01.2016_22:08:46
ACERULOPLASMINEMIA
  1. onset, adult
  2. ataxia
  3. Iron
  4. Ceruloplasmin
  5. Copper
  6. diabetes mellitus
  7. dementia
  8. anemia
  9. Ceruloplasmin ferroxidase *
  10. liver involvement (acute, chronic, hepatitis)
  11. MRI, brain, abnormalities -
  12. chorea or athetosis
  13. hypotonia
  14. clumsiness, coordination defect or unsteadiness
  15. retinal or macular degeneration
  16. cognitive impairment
  17. tremor or twitching
  18. Ferritin

CONGENITAL DISORDER OF GLYCOSYLATION CDG-If Last update 18.12.2015_20:51:58
CONGENITAL DISORDER OF GLYCOSYLATION CDG-If
  1. motor retardation
  2. seizures
  3. mental retardation
  4. failure to thrive
  5. skin rushes
  6. impaired visual acuity
  7. hypotonia
  8. contractures, joints
  9. onset, newborn
  10. nystagmus
  11. blindness, visual loss, visual impairment
  12. EEG abnormalities -
  13. cerebral atrophy
  14. MRI, brain, abnormalities -
  15. feeding difficulties
  16. vomiting
  17. ataxia
  18. speech development, delayed, abnormal
  19. Transferrin
  20. Antithrombin III (AT III)

CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ig Last update 03.12.2015_15:24:06
CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ig
  1. microcephaly
  2. mental retardation
  3. seizures
  4. dysmorphism
  5. onset, newborn
  6. hypotonia
  7. feeding difficulties
  8. failure to thrive
  9. motor retardation
  10. strabismus
  11. Immunoglobulines
  12. Transferrin
  13. genital hypoplasia
  14. limb abnormalities, limb deformities
  15. cardiomyopathy
  16. edema
  17. prematurity
  18. gastrointestinal dysmotility

CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ih Last update 18.12.2015_20:49:45
CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ih
  1. diarrhea
  2. large liver
  3. onset, infant
  4. Albumin
  5. enteropathy, protein-loosing
  6. Coagulopathy/Coagulation factors
  7. fetal akinesia/hypokinesia sequence
  8. oligohydramnion (maternal)
  9. failure to thrive
  10. ascites
  11. tubulopathy
  12. anemia
  13. early death
  14. dysmorphism
  15. Transferrin
  16. edema
  17. mental retardation
  18. ataxia
  19. hypotonia

CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ii Last update 02.01.2016_16:26:03
CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ii
  1. mental retardation
  2. motor retardation
  3. seizures
  4. cleft eyelid (coloboma)
  5. Coagulopathy/Coagulation factors
  6. large liver
  7. onset, infant

CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ij Last update 18.12.2015_20:55:23
CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ij
  1. infantile spasms
  2. microcephaly
  3. dysmorphism
  4. hypotonia
  5. seizures
  6. speech development, delayed, abnormal
  7. clinodactyly
  8. mental retardation

CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIc Last update 02.01.2016_14:53:06
CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIc
  1. infections (severe or recurrent)
  2. short stature
  3. hypotonia
  4. seizures
  5. mental retardation
  6. motor retardation
  7. dysmorphism
  8. microcephaly
  9. growth retardation
  10. cerebral atrophy
  11. Sialotransferrins (isoelectrofocussing)

CONGENITAL DISORDER OF GLYCOSYLATION CDG-IId Last update 02.01.2016_15:08:00
CONGENITAL DISORDER OF GLYCOSYLATION CDG-IId
  1. hypotonia
  2. myopathy
  3. hydrocephalus
  4. Coagulopathy/Coagulation factors
  5. macrocephaly (large calvaria, >2 SD for age)
  6. cholestasis
  7. mental retardation
  8. Creatinine kinase
  9. Transferrin
  10. Beta-N-acetylglucosaminylglycopeptide beta-1
  11. diarrhea

D-BIFUNCTIONAL PROTEIN DEFICIENCY Last update
D-BIFUNCTIONAL PROTEIN DEFICIENCY
  1. hypotonia
  2. dysmorphism
  3. seizures
  4. large liver
  5. mental retardation
  6. C26:0
  7. ascites
  8. heart involvement
  9. Pipecolic acid
  10. Trihydroxycoprostanic acid
  11. motor retardation
  12. early death

SEPIAPTERIN REDUCTASE DEFICIENCY Last update 03.12.2015_12:34:49
SEPIAPTERIN REDUCTASE DEFICIENCY
  1. progressive neurologic defect
  2. microcephaly
  3. motor retardation
  4. mental retardation
  5. hypersalivation
  6. dystonia
  7. seizures
  8. tremor or twitching
  9. extrapyramidal signs
  10. oculogyric crisis
  11. MRI, brain, abnormalities -
  12. cortical or cerebral atrophy
  13. Biopterin
  14. Sepiapterin
  15. hypotonia
  16. hypertonia, spasticity
  17. 5-Hydroxyindolacetic acid
  18. Homovanillic acid
  19. behavior, abnormal or bizarre, confusion
  20. diurnal fluctuation of symptom
  21. speech difficulties
  22. Parkinsonism
  23. muscle weakness
  24. Phenylalanine (Phe) loading test
  25. Dihydrobiopterin
  26. Prolactin
  27. hypokinesia
  28. dysarthria
  29. gastrointestinal dysmotility

METABOLIC ENCEPHALOPATHY (EPEMA) Last update 03.07.2009_21:46:28
METABOLIC ENCEPHALOPATHY (EPEMA)
  1. encephalopathy
  2. myelopathy
  3. failure to thrive
  4. seizures
  5. ophthalmoplegia
  6. hearing defect, deafness
  7. progressive neurologic defect

HYPEREKPLEXIA Last update
HYPEREKPLEXIA
  1. hypertonia, spasticity
  2. onset, newborn
  3. myoclonus
  4. seizures
  5. motor retardation
  6. sudden death
  7. exaggerated startle reflex
  8. feeding difficulties, poor feeding
  9. muscle stiffness
  10. hernia
  11. metabolic alkalosis

DELTA-PYRROLIDINE-5-CARBOXYLATE SYNTHASE DEFICIENCY Last update 08.11.2012_21:18:01
DELTA-PYRROLIDINE-5-CARBOXYLATE SYNTHASE DEFICIENCY
  1. hyperammonemia
  2. Ammonia
  3. Ornithine
  4. Citrulline
  5. Arginine
  6. Proline
  7. joint hypermobilty, dislocations
  8. skin hyperelasticity
  9. cataract
  10. mental retardation
  11. progressive neurologic defect

CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ik Last update 02.01.2016_12:27:23
CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ik
  1. hydrops fetalis
  2. large liver
  3. large spleen
  4. cardiomyopathy
  5. seizures
  6. dysmorphism
  7. microcephaly
  8. cerebral atrophy
  9. early death
  10. onset, fetus
  11. onset, newborn
  12. Coagulopathy/Coagulation factors
  13. hypotonia
  14. beta-1,4-mannosyltransferase
  15. blindness, visual loss, visual impairment
  16. Transferrin
  17. diarrhea
  18. ascites
  19. apnea

RIBOSE-5-PHOSPHATE ISOMERASE DEFICIENCY Last update
RIBOSE-5-PHOSPHATE ISOMERASE DEFICIENCY
  1. MRS, brain, abnormalities -
  2. peripheral neuropathy
  3. leukoencephalopathy
  4. Ribitol
  5. D-Arabitol
  6. optic atrophy
  7. ataxia
  8. seizures
  9. motor retardation
  10. mental retardation

TRANSALDOLASE DEFICIENCY Last update
TRANSALDOLASE DEFICIENCY
  1. liver involvement (acute, chronic, hepatitis)
  2. large liver
  3. cirrhosis or fibrosis of liver
  4. onset, infant
  5. Ribitol
  6. D-Arabitol
  7. Erythritol
  8. Thrombocytes, Platelets
  9. large spleen
  10. liver failure
  11. Coagulopathy/Coagulation factors
  12. edema
  13. cardiomyopathy
  14. hypotonia
  15. dysmorphism
  16. hypoglycemia
  17. hyperammonemia
  18. Protein, total, serum

EXERCISE-INDUCED-HYPERINSULINSM EIHI Last update
EXERCISE-INDUCED-HYPERINSULINSM EIHI
  1. Glucose
  2. hypoglycemia
  3. Insulin
  4. syncope
  5. seizures

SHORT/BRANCHED-CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY Last update
SHORT/BRANCHED-CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY
  1. 2-Methylbutyrylglycine
  2. motor retardation
  3. athetosis
  4. muscle atrophy
  5. hypotonia
  6. strabismus
  7. mental retardation
  8. MRI, brain, abnormalities -
  9. 2-Ethylhydracrilic acid
  10. seizures
  11. Isovaleryl/2-Methylbutyrylcarnitine (C5)
  12. 2-Methylbutyrylcarnitine

MUCOPOLYSACCHARIDOSIS IX Last update
MUCOPOLYSACCHARIDOSIS IX
  1. short stature
  2. onset, child
  3. joint effusions
  4. dysmorphism
  5. infections (severe or recurrent)
  6. multiple periarticular soft-tissue masses

NEONATAL DIABETES MELLITUS, ENTEROPATHY, THROMBOCYTOPENIA AND ENDOCRINOPATHY Last update
NEONATAL DIABETES MELLITUS, ENTEROPATHY, THROMBOCYTOPENIA AND ENDOCRINOPATHY
  1. thrombopenia, thrombocytopenia
  2. diarrhea
  3. enteropathy, protein-loosing
  4. ileus
  5. eczematoid skin rush
  6. anemia
  7. hyperglycemia
  8. infections (severe or recurrent)

TRANSIENT NEONATAL DIABETES MELLITUS Last update
TRANSIENT NEONATAL DIABETES MELLITUS
  1. onset, newborn
  2. hyperglycemia
  3. growth retardation
  4. diabetes mellitus
  5. failure to thrive

XANTHINURIA TYPE II Last update
XANTHINURIA TYPE II
  1. mental retardation
  2. behavior, autism or autistic-like
  3. renal cysts
  4. nephrocalcinosis
  5. hair, abnormal (thin, brittle)
  6. Uric acid
  7. Xanthine
  8. Hypoxanthine
  9. generalized tooth defect

3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE DEFICIENCY Last update 12.12.2015_21:06:22
3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE DEFICIENCY
  1. coma
  2. hypoglycemia
  3. large liver
  4. onset, adult

METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY Last update 11.12.2015_22:53:24
METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
  1. beta-Alanine
  2. 3-Hydroxypropionic acid
  3. 3-Hydroxyisobutyric acid
  4. 3-Aminoisobutyric acid
  5. Methylmalonic acid
  6. Lactate
  7. motor retardation
  8. mental retardation
  9. vomiting
  10. failure to thrive
  11. large liver

CORTICOSTERONE METHYL OXIDASE I DEFICIENCY- CMO I Last update 08.05.2016_19:17:27
CORTICOSTERONE METHYL OXIDASE I DEFICIENCY- CMO I
  1. failure to thrive
  2. Sodium
  3. Potassium
  4. Aldosterone
  5. metabolic acidosis
  6. dehydration
  7. vomiting
  8. feeding difficulties, poor feeding
  9. 18-Hydroxycorticosterone
  10. growth retardation
  11. onset, newborn

CORTICOSTERONE METHYL OXIDASE II DEFICIENCY - CMO II Last update 08.05.2016_19:17:02
CORTICOSTERONE METHYL OXIDASE II DEFICIENCY - CMO II
  1. hypertension
  2. dehydration
  3. Sodium
  4. Potassium
  5. failure to thrive
  6. vomiting
  7. diarrhea
  8. onset, infant
  9. metabolic acidosis
  10. Plasma renin activity (PRA)
  11. Aldosterone
  12. growth retardation
  13. skin, abnormal
  14. Corticosterone
  15. 18-Hydroxycorticosterone
  16. 18-Hydroxy-11-dehydrocorticosterone
  17. Aldosterone/renin ratio

X-LINKED CREATINE-TRANSPORTER DEFECT Last update 08.05.2016_19:50:52
X-LINKED CREATINE-TRANSPORTER DEFECT
  1. seizures
  2. mental retardation
  3. MRS, brain, abnormalities -
  4. speech development, delayed, abnormal
  5. behavior, abnormal or bizarre, confusion
  6. Creatine
  7. learning disability
  8. growth retardation
  9. failure to thrive
  10. vomiting
  11. hypotonia
  12. onset, infant
  13. extrapyramidal signs
  14. dysmorphism
  15. dystonia
  16. 2-Oxoglutaric acid
  17. Citrate
  18. Creatinine
  19. Creatine/creatinine ratio
  20. behavior, autism or autistic-like
  21. Creatine uptake

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1 Last update
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1
  1. liver failure
  2. onset, newborn
  3. Coagulopathy/Coagulation factors
  4. bleeding tendencies, hemorrhages
  5. large liver
  6. hyperammonemia
  7. lactic acidosis
  8. fever
  9. large spleen
  10. Triglycerides
  11. pancytopenia
  12. onset, infant
  13. ascites
  14. thrombopenia, thrombocytopenia
  15. Ferritin
  16. Fibrinogen
  17. Soluble interleukin 2 receptor (sCD25)

L-ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY Last update 01.12.2015_18:55:35
L-ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY
  1. motor retardation
  2. mental retardation
  3. speech development, delayed, abnormal
  4. behavior, autism or autistic-like
  5. seizures
  6. EEG abnormalities -
  7. Guanidinoacetate
  8. Creatine

LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY Last update
LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY
  1. corneal clouding
  2. corneal deposits
  3. Cholesterol
  4. anemia
  5. Protein
  6. renal failure, acute/chronic

FISH-EYE DISEASE Last update
FISH-EYE DISEASE
  1. corneal deposits
  2. corneal arcus
  3. Triglycerides
  4. HDL cholesterol
  5. corneal clouding

TANGIER DISEASE Last update
TANGIER DISEASE
  1. cataract
  2. large liver
  3. HDL cholesterol
  4. Triglycerides
  5. corneal clouding
  6. peripheral neuropathy
  7. large spleen
  8. coronary heart disease
  9. tonsils
  10. Apolipoprotein

GLUCOCORTICOID RESISTANCE Last update
GLUCOCORTICOID RESISTANCE
  1. Cortisol
  2. hirsutism
  3. menstrual irregularities
  4. hypertension
  5. metabolic alkalosis

CHILD SYNDROME Last update 03.02.2016_21:04:31
CHILD SYNDROME
  1. limb abnormalities, limb deformities
  2. ichthyosiform nevi
  3. hemidysplasia
  4. punctate calcifications
  5. 8-Dehydrocholesterol
  6. 8(9)-cholestenol
  7. hearing defect, deafness
  8. lung hypoplasia

DESMOSTEROLOSIS Last update 16.05.2010_12:33:21
DESMOSTEROLOSIS
  1. macrocephaly (large calvaria, >2 SD for age)
  2. microcephaly
  3. dysmorphism
  4. mental retardation
  5. corpus callosum, agenesis/hypoplasia
  6. cleft palate
  7. small chin or micrognathia
  8. clubfoot
  9. Desmosterol
  10. speech development, delayed, abnormal
  11. motor retardation

CYSTINYLGLYCINURIA Last update 15.05.2016_16:26:13
CYSTINYLGLYCINURIA
  1. Cystinylglycine
  2. EEG abnormalities -
  3. hearing defect, deafness
  4. mental retardation
  5. motor retardation
  6. peripheral neuropathy
  7. Cysteinyl leukotrienes (LTC4, LTD4, LTE4)

gamma-GLUTAMYL-TRANSPEPTIDASE DEFICIENCY Last update
gamma-GLUTAMYL-TRANSPEPTIDASE DEFICIENCY
  1. mental retardation
  2. psychosis
  3. Glutathione
  4. gamma-Glutamylcysteine
  5. behavior, abnormal or bizarre, confusion
  6. Cysteine
  7. gamma-Glutamyl transpeptidase
  8. onset, infant
  9. tall stature
  10. gamma-Glutamylglutamine

GLUTARIC ACIDURIA TYPE III Last update
GLUTARIC ACIDURIA TYPE III
  1. Glutaric acid
  2. dysmorphism
  3. no clinical signs or symptoms
  4. hyperthyroidism

FEEDING: THIAMINE DEFICIENY DD Last update 14.05.2016_11:10:31
FEEDING: THIAMINE DEFICIENY DD
  1. encephalopathy
  2. cardiomyopathy
  3. nystagmus
  4. ophthalmoplegia
  5. vomiting
  6. Transketolase
  7. Lactate
  8. lactic acidosis
  9. lethargy, drowsiness, malaise or sleep disorder
  10. irritability
  11. abdominal distension
  12. diarrhea
  13. failure to thrive
  14. infections (severe or recurrent)
  15. motor retardation

FAMILIAL MULTIPLE COAGULATION FACTOR DEFICIENCY Last update 22.09.2009_16:17:34
FAMILIAL MULTIPLE COAGULATION FACTOR DEFICIENCY
  1. bleeding tendencies, hemorrhages
  2. onset, newborn
  3. Coagulopathy/Coagulation factors
  4. early death

SENGERS SYNDROME Last update
SENGERS SYNDROME
  1. lactic acidosis
  2. cataract
  3. cardiomyopathy
  4. nystagmus
  5. hypotonia
  6. early death
  7. onset, newborn
  8. muscle weakness

NUCLEOTIDE DEPLETION SYNDROME Last update
NUCLEOTIDE DEPLETION SYNDROME
  1. seizures
  2. ataxia
  3. speech development, delayed, abnormal
  4. behavior, hyperactive, restless
  5. infections (severe or recurrent)
  6. onset, infant
  7. EEG abnormalities -
  8. mental retardation
  9. sparse or absent scalp hair (focal or general)
  10. Uric acid
  11. 5-Nucleotidase

MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY ECHS1D Last update 06.12.2015_21:40:14
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY ECHS1D
  1. Lactate
  2. nystagmus
  3. hearing defect, deafness
  4. hypotonia
  5. apnea
  6. hypertonia, spasticity
  7. motor retardation
  8. Glyoxylic acid
  9. onset, newborn
  10. leukoencephalopathy
  11. basal ganglia, changes
  12. cerebral atrophy
  13. metabolic acidosis
  14. 2-methyl-2,3-dihydroxybutyrate
  15. encephalopathy
  16. seizures
  17. optic atrophy
  18. cardiomyopathy

ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY Last update 24.01.2016_15:55:51
ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY
  1. motor retardation
  2. onset, adult
  3. seizures
  4. neuropathy
  5. paraparesis/paraplegia
  6. diarrhea
  7. Transaminases
  8. Phosphatase, alkaline
  9. Phytanic acid
  10. Pristanic acid
  11. Trihydroxycholestanoic acid
  12. Dihydroxycholestanoic acid
  13. tremor or twitching
  14. MRI, brain, white matter abnormalities -
  15. onset, child
  16. retinitis pigmentosa
  17. encephalopathy
  18. impaired visual acuity
  19. headache (severe, recurrent or occipital, migraine)
  20. ataxia
  21. dysarthria

DIMETHYLGLYCINURIA Last update 16.05.2016_16:42:19
DIMETHYLGLYCINURIA
  1. unusual odor
  2. Creatinine kinase
  3. MRS, brain, abnormalities -
  4. muscle weakness
  5. N,N-Dimethylglycine
  6. rotting fish odor

ISOBUTYRYL-COA DEHYDROGENASE DEFICIENCY Last update
ISOBUTYRYL-COA DEHYDROGENASE DEFICIENCY
  1. anemia
  2. cardiomyopathy
  3. Isobutyrylglycine
  4. no clinical signs or symptoms
  5. Butyryl/Isobutyrylcarnitine (C4)

PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY Last update
PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY
  1. onset, newborn
  2. encephalopathy
  3. early death
  4. metabolic acidosis
  5. lactic acidosis
  6. Lactate
  7. brain, cortical or paraventricular cysts
  8. optic atrophy
  9. microcephaly
  10. hypotonia
  11. spastic diplegia/quadriplegia
  12. dystonia
  13. ataxia
  14. seizures
  15. mental retardation
  16. Pyruvate, Pyruvic acid
  17. Alanine

HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA Last update
HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA
  1. tetany
  2. Magnesium
  3. Calcium
  4. seizures

PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY 1 (PEPCK1) Last update
PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY 1 (PEPCK1)
  1. hypoglycemia
  2. onset, newborn
  3. liver failure
  4. optic atrophy
  5. cerebral atrophy
  6. early death

METHYLMALONIC ACIDURIA, cblB TYPE Last update
METHYLMALONIC ACIDURIA, cblB TYPE
  1. onset, newborn
  2. vomiting
  3. failure to thrive
  4. lethargy, drowsiness, malaise or sleep disorder
  5. metabolic acidosis
  6. neutropenia (decreased neutrophils)
  7. Thrombocytes, Platelets
  8. Methylmalonic acid
  9. hyperammonemia
  10. Ketone bodies
  11. Ammonia
  12. coma
  13. onset, child
  14. anemia
  15. hyperglycemia

MAMEL (METHYLMALONIC ACIDURIA MITOCHONDRIAL ENCEPHELOPATHY LEIGH-LIKE) A NEW MITOCHONDRIAL ENCEPHALOPATHY Last update 17.01.2016_11:04:20
MAMEL (METHYLMALONIC ACIDURIA MITOCHONDRIAL ENCEPHELOPATHY LEIGH-LIKE) A NEW MITOCHONDRIAL ENCEPHALOPATHY
  1. hypotonia
  2. mental retardation
  3. motor retardation
  4. dystonia
  5. athetosis
  6. failure to thrive
  7. lactic acidosis
  8. Methylmalonic acid
  9. Acylcarnitine/carnitine ratio
  10. MRI, brain, abnormalities -

CONGENITAL GLUTAMINE DEFICIENCY Last update 07.05.2016_10:47:17
CONGENITAL GLUTAMINE DEFICIENCY
  1. CT, brain, abnormalities -
  2. early death
  3. Glutamine
  4. brain malformation
  5. limb abnormalities, limb deformities
  6. dysmorphism
  7. hypotonia
  8. diarrhea
  9. skin rushes
  10. respiratory insufficiency
  11. apnea
  12. encephalopathy
  13. seizures
  14. hyperreflexia
  15. onset, newborn
  16. hyperammonemia

CONGENITAL DISORDER OF GLYCOSYLATION CDG-Il Last update 02.01.2016_12:21:37
CONGENITAL DISORDER OF GLYCOSYLATION CDG-Il
  1. microcephaly
  2. hypotonia
  3. seizures
  4. large liver
  5. mental retardation
  6. motor retardation
  7. cerebral atrophy
  8. failure to thrive
  9. pericardial effusion
  10. renal cysts
  11. inverted nipples
  12. Transferrin
  13. large spleen
  14. Coagulopathy/Coagulation factors
  15. strabismus
  16. Albumin
  17. Cholesterol

3-METHYLGLUTACONIC ACIDURIA, NOVEL SUBTYPE Last update 03.01.2016_20:20:19
3-METHYLGLUTACONIC ACIDURIA, NOVEL SUBTYPE
  1. cardiomyopathy
  2. cataract
  3. mental retardation
  4. lactic acidosis
  5. onset, infant
  6. onset, newborn
  7. microcephaly
  8. seizures
  9. MRI, brain, abnormalities -
  10. cerebellar atrophy or hypoplasia
  11. early death
  12. coma
  13. 3-Methylglutaconic acid
  14. 3-Methylglutaric acid
  15. Lactate
  16. Pyruvate, Pyruvic acid
  17. microphthalmus

CITRULLINEMIA TYPE II, NEONATAL ONSET Last update 16.05.2016_17:08:50
CITRULLINEMIA TYPE II, NEONATAL ONSET
  1. jaundice
  2. liver, fatty
  3. cholestasis
  4. onset, newborn
  5. large liver
  6. failure to thrive
  7. bleeding tendencies, hemorrhages
  8. Galactose
  9. Coagulopathy/Coagulation factors
  10. Citrulline
  11. Methionine
  12. Tyrosine
  13. Threonine
  14. hypoglycemia
  15. alpha-Fetoprotein
  16. Acylcarnitin, urine
  17. Carnitine
  18. Propionylcarnitine (C3)
  19. Bilirubin
  20. 4-Hydroxyphenyllactic acid
  21. Protein, total, serum
  22. Palmitoylcarnitine (C16)
  23. Stearoylcarnitine (C18)
  24. Phenylalanine
  25. cirrhosis or fibrosis of liver

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE Last update 15.10.2012_11:28:45
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE
  1. hypotonia
  2. nystagmus
  3. seizures
  4. anemia
  5. Homocysteine
  6. Methionine
  7. MRI, brain, abnormalities -
  8. cerebellar atrophy or hypoplasia
  9. cerebral atrophy
  10. behavior, hyperactive, restless
  11. mental retardation
  12. dystonia
  13. onset, infant
  14. speech development, delayed, abnormal
  15. Methylmalonic acid
  16. Methylcitric acid

PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY - NEW DISORDER? Last update
PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY - NEW DISORDER?
  1. seizures
  2. onset, infant
  3. microcephaly
  4. cerebellar atrophy or hypoplasia
  5. MRI, brain, abnormalities -
  6. Serine
  7. Glycine
  8. early death

ACYL CoA DEHYDROGENASE 9 DEFICIENCY Last update 03.01.2016_21:32:23
ACYL CoA DEHYDROGENASE 9 DEFICIENCY
  1. liver failure
  2. hypoglycemia
  3. cardiomyopathy
  4. onset, child
  5. early death
  6. liver involvement (acute, chronic, hepatitis)
  7. strokelike episodes
  8. onset, infant
  9. muscle weakness
  10. Lactate
  11. Ammonia
  12. Transaminases
  13. Dicarboxylic acids, urine
  14. Lactate dehydrogenase (LDH)
  15. Long chain acyl carnitines
  16. metabolic acidosis
  17. encephalopathy
  18. failure to thrive
  19. hearing defect, deafness
  20. exercise intolerance
  21. 2-Hydroxybutyric acid
  22. Creatinine kinase
  23. Glucose
  24. Carnitine

P450 OXIREDUCTASE DEFICIENCY Last update
P450 OXIREDUCTASE DEFICIENCY
  1. 17-Hydroxy-Progesteron
  2. virilisation
  3. polycystic ovaries
  4. genitalia, ambigous

11-BETA-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY Last update 02.12.2015_16:35:56
11-BETA-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY
  1. headache (severe, recurrent or occipital, migraine)
  2. hypertension
  3. Potassium
  4. Tetrahydrocortisone
  5. Tetrahydrocortisol
  6. Plasma renin activity (PRA)
  7. onset, child
  8. onset, infant
  9. metabolic alkalosis
  10. short stature
  11. Cortisol/cortisone ratio
  12. failure to thrive
  13. birthweight low (small for gestational age)
  14. Aldosterone

PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY Last update
PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY
  1. seizures
  2. encephalopathy
  3. prematurity
  4. Lactate
  5. Glycine
  6. Threonine
  7. onset, newborn

HOMOCARNOSINOSIS Last update 27.08.2009_14:13:48
HOMOCARNOSINOSIS
  1. Homocarnosine
  2. mental retardation
  3. spastic diplegia/quadriplegia
  4. hypotonia
  5. retinitis pigmentosa
  6. onset, child

MITOCHONDRIAL ENCEPHALOMYOPATHTHY WITH ELEVANTED METHYLMALONIC ACID, SUCLA2 Last update 07.05.2016_20:14:51
MITOCHONDRIAL ENCEPHALOMYOPATHTHY WITH ELEVANTED METHYLMALONIC ACID, SUCLA2
  1. Methylmalonic acid
  2. Succinylcarnitine
  3. hypotonia
  4. cortical or cerebral atrophy
  5. hypothermia
  6. hearing defect, deafness
  7. muscle atrophy
  8. growth retardation
  9. MRI, brain, abnormalities -
  10. dystonia
  11. basal ganglia, changes
  12. lactic acidosis
  13. 3-Hydroxyisovaleric acid

MITOCHONDRIAL COMPLEX II DEFICIENCY Last update 07.05.2016_10:11:20
MITOCHONDRIAL COMPLEX II DEFICIENCY
  1. cardiomyopathy
  2. onset, infant
  3. early death
  4. Lactate
  5. lactic acidosis
  6. mental retardation
  7. motor retardation
  8. leukoencephalopathy
  9. hypotonia
  10. muscle weakness
  11. exercise intolerance
  12. ataxia
  13. seizures
  14. myoclonus
  15. onset, newborn
  16. short stature
  17. nystagmus
  18. dystonia

HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblG COMPLEMENTATION TYPE Last update 15.05.2016_16:51:21
HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblG COMPLEMENTATION TYPE
  1. Homocystine
  2. Methionine
  3. Methylmalonic acid
  4. anemia
  5. failure to thrive
  6. feeding difficulties
  7. cerebral atrophy
  8. blindness, visual loss, visual impairment
  9. VEP (visual evoked potentials), abnormal -
  10. leukoencephalopathy
  11. mental retardation

FABRY DISEASE Last update 22.09.2009_16:11:53
FABRY DISEASE

WOLCOTT-RALLISON SYNDROME Last update 08.01.2013_21:49:52
WOLCOTT-RALLISON SYNDROME
  1. diabetes mellitus
  2. epiphyseal dysplasia
  3. hypoglycemia
  4. renal failure, acute/chronic
  5. liver failure
  6. early death
  7. microcephaly
  8. Adipic acid
  9. hemolysis
  10. short stature
  11. onset, infant
  12. infections (severe or recurrent)
  13. neutropenia (decreased neutrophils)
  14. pancreatic insufficiency

3-METHYLGLUTACONIC ACIDURIA (TYPE V) Last update 03.01.2016_20:19:47
3-METHYLGLUTACONIC ACIDURIA (TYPE V)
  1. growth retardation
  2. optic atrophy
  3. cardiomyopathy
  4. cardiac arrest
  5. hypospadia
  6. ataxia
  7. mental retardation
  8. Transaminases
  9. failure to thrive
  10. seizures
  11. cryptorchism
  12. 3-Methylglutaconic acid
  13. 3-Methylglutaric acid
  14. testicular dysgenesis
  15. early death
  16. muscle weakness

FEEDING: MELAMINE-FORMULA DD Last update 15.07.2016_13:08:45
FEEDING: MELAMINE-FORMULA DD
  1. urolithiasis
  2. renal failure, acute/chronic
  3. onset, infant

NEUROBLASTOMA Last update 07.03.2009_17:53:28
NEUROBLASTOMA
  1. failure to thrive
  2. large liver
  3. ataxia
  4. Homovanillic acid
  5. 3-Methoxy-4-hydroxymandelic acid
  6. onset, infant
  7. onset, newborn

D-LACTIC ACIDOSIS - INBORN ERROR OF METABOLISM? Last update 16.05.2009_17:17:45
D-LACTIC ACIDOSIS - INBORN ERROR OF METABOLISM?
  1. metabolic acidosis
  2. mental retardation
  3. Lactate
  4. microcephaly

D-LACTIC ACIDOSIS - AND SHORT BOWEL SYNDROME DD Last update 15.07.2016_12:56:53
D-LACTIC ACIDOSIS - AND SHORT BOWEL SYNDROME DD
  1. encephalopathy
  2. Lactate
  3. metabolic acidosis
  4. ataxia
  5. tachypnea, hyperpnea, dyspnea, respiratory distress
  6. behavior, abnormal or bizarre, confusion
  7. coma
  8. cardiac involvement
  9. heart failure
  10. lethargy, drowsiness, malaise or sleep disorder

NADH-DEPENDENT METHEMOGLOBIN REDUCTASE DEFICIENCY Last update 21.06.2009_16:31:50
NADH-DEPENDENT METHEMOGLOBIN REDUCTASE DEFICIENCY
  1. cyanosis
  2. methemoglobinemia
  3. onset, newborn

CONGENITAL DISORDER OF GLYCOSYLATION CDG-Im Last update 02.01.2016_12:33:25
CONGENITAL DISORDER OF GLYCOSYLATION CDG-Im
  1. cardiomyopathy
  2. early death
  3. seizures
  4. hypotonia
  5. ichthyosis
  6. hair loss
  7. hypoglycemia

CONGENITAL DISORDER OF GLYCOSYLATION CDG-Io Last update 02.01.2016_13:03:42
CONGENITAL DISORDER OF GLYCOSYLATION CDG-Io
  1. Transferrin
  2. muscle weakness
  3. cardiomyopathy
  4. strokelike episodes
  5. Creatinine kinase
  6. Transaminases

CONGENITAL DISORDER OF GLYCOSYLATION CDG-In Last update 02.01.2016_12:49:58
CONGENITAL DISORDER OF GLYCOSYLATION CDG-In
  1. hearing defect, deafness
  2. failure to thrive
  3. seizures
  4. hypotonia
  5. large liver
  6. mental retardation
  7. Coagulopathy/Coagulation factors
  8. short stature
  9. microcephaly
  10. inverted nipples
  11. feeding difficulties
  12. myoclonus
  13. ataxia
  14. hypertonia, spasticity
  15. onset, infant

CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIe Last update 21.02.2016_15:12:20
CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIe
  1. dysmorphism
  2. large liver
  3. large spleen
  4. hypotonia
  5. limb abnormalities, limb deformities
  6. seizures
  7. infections (severe or recurrent)
  8. early death
  9. growth retardation
  10. microcephaly
  11. failure to thrive
  12. heart involvement
  13. hyperthermia
  14. Sialotransferrins (isoelectrofocussing)
  15. feeding difficulties
  16. Creatinine kinase
  17. Transaminases
  18. skin, abnormal

CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIf Last update 02.01.2016_15:46:09
CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIf
  1. infections (severe or recurrent)
  2. thrombopenia, thrombocytopenia
  3. neutropenia (decreased neutrophils)
  4. onset, infant
  5. bleeding tendencies, hemorrhages
  6. early death
  7. Sialotransferrins (isoelectrofocussing)
  8. Protein
  9. Thrombocytes, Platelets
  10. seizures

CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIh Last update 02.01.2016_16:10:14
CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIh
  1. hypotonia
  2. encephalopathy
  3. mental retardation
  4. Transaminases
  5. Creatinine kinase
  6. cerebellar atrophy or hypoplasia
  7. motor retardation
  8. progressive neurologic defect
  9. seizures
  10. bleeding tendencies, hemorrhages
  11. Coagulopathy/Coagulation factors
  12. Sialotransferrins (isoelectrofocussing)
  13. ataxia
  14. strabismus
  15. infections (severe or recurrent)

CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIj Last update 02.01.2016_16:30:18
CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIj
  1. ataxia
  2. hypotonia
  3. dysmorphism
  4. infections (severe or recurrent)
  5. hyperreflexia
  6. Transaminases
  7. Phosphatase, alkaline
  8. Thrombocytes, Platelets
  9. Coagulopathy/Coagulation factors
  10. failure to thrive
  11. microcephaly
  12. nystagmus
  13. large liver
  14. liver failure
  15. diarrhea
  16. speech development, delayed, abnormal
  17. seizures
  18. irritability

CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIg Last update 02.01.2016_15:59:03
CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIg
  1. feeding difficulties
  2. failure to thrive
  3. hypotonia
  4. growth retardation
  5. microcephaly
  6. dysmorphism
  7. Transferrin
  8. cerebral atrophy
  9. cerebellar atrophy or hypoplasia
  10. limb abnormalities, limb deformities
  11. mental retardation
  12. costovertebral abnormalities
  13. Sialotransferrins (isoelectrofocussing)
  14. hearing defect, deafness
  15. large liver

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE Last update 15.10.2012_11:34:30
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE
  1. hypotonia
  2. Methylmalonic acid
  3. Homocysteine
  4. lethargy, drowsiness, malaise or sleep disorder
  5. feeding difficulties, poor feeding
  6. anemia
  7. congenital heart defect

2-HYDROXYGLUTARIC ACIDURIA (D) TYPE II Last update 07.12.2015_20:47:03
2-HYDROXYGLUTARIC ACIDURIA (D) TYPE II
  1. cardiomegaly
  2. cardiomyopathy
  3. hypotonia
  4. seizures
  5. speech development, delayed, abnormal
  6. onset, infant
  7. onset, child
  8. 2-Hydroxyglutaric acid (D)
  9. no clinical signs or symptoms
  10. dysmorphism

COBALAMIN F DISEASE (cblF) Last update 05.05.2016_11:16:21
COBALAMIN F DISEASE (cblF)
  1. dysmorphism
  2. growth retardation
  3. speech development, delayed, abnormal
  4. birthweight low (small for gestational age)
  5. failure to thrive
  6. feeding difficulties
  7. anemia
  8. hypotonia
  9. seizures
  10. short stature
  11. Homocysteine
  12. Methylmalonic acid
  13. Cobalamin
  14. congenital heart defect
  15. onset, newborn

MITOCHONDRIAL COMPLEX I DEFICIENCY Last update 07.05.2016_09:57:55
MITOCHONDRIAL COMPLEX I DEFICIENCY
  1. onset, infant
  2. hypotonia
  3. nystagmus
  4. dystonia
  5. pyramidal signs
  6. motor retardation
  7. failure to thrive
  8. feeding difficulties
  9. optic atrophy
  10. early death
  11. tachypnea, hyperpnea, dyspnea, respiratory distress
  12. vomiting
  13. seizures
  14. cardiomyopathy
  15. ataxia
  16. encephalopathy
  17. irritability
  18. hearing defect, deafness
  19. liver involvement (acute, chronic, hepatitis)
  20. temperature instability
  21. Lactate
  22. Alanine
  23. growth retardation
  24. macrocephaly (large calvaria, >2 SD for age)
  25. strabismus
  26. ptosis (drooping eyelid)
  27. blindness, visual loss, visual impairment
  28. hypoglycemia

D,L-2-HYDROXYGLUTARIC ACIDURIA Last update 07.12.2015_20:31:05
D,L-2-HYDROXYGLUTARIC ACIDURIA
  1. onset, newborn
  2. encephalopathy
  3. microcephaly
  4. blindness, visual loss, visual impairment
  5. dystonia
  6. respiratory insufficiency
  7. stridor
  8. large liver
  9. hypotonia
  10. feeding difficulties, poor feeding
  11. irritability
  12. seizures
  13. motor retardation
  14. cerebellar atrophy or hypoplasia
  15. early death
  16. 2-Hydroxyglutaric acid (D)
  17. 2-Hydroxyglutaric acid (L)
  18. 2-Oxoglutaric acid
  19. macrocephaly (large calvaria, >2 SD for age)

PHOSPHOSERINE PHOSPHATASE DEFICIENCY Last update 10.11.2012_20:35:15
PHOSPHOSERINE PHOSPHATASE DEFICIENCY
  1. growth retardation
  2. motor retardation
  3. Serine
  4. microcephaly

SERINE DEFIENCY SYNDROME - NEW DISEASE? Last update 10.11.2012_20:24:50
SERINE DEFIENCY SYNDROME - NEW DISEASE?
  1. onset, adult
  2. lethargy, drowsiness, malaise or sleep disorder
  3. speech difficulties
  4. ataxia
  5. Serine
  6. Glycine

N-ACETYLASPARTYLGLUTAMATE ACCUMULATION Last update 04.07.2013_14:18:56
N-ACETYLASPARTYLGLUTAMATE ACCUMULATION
  1. N-Acetylaspartylglutamate

MALONIC ACIDURIA Last update 05.07.2013_13:57:34
MALONIC ACIDURIA
  1. Malonic acid
  2. Methylmalonic acid

NONALCOHOLIC FATTY LIVER DISEASE DD Last update 27.11.2015_21:05:18
NONALCOHOLIC FATTY LIVER DISEASE DD
  1. Transaminases
  2. obesity

GLYCINE n-METHYLTRANSFERASE DEFICIENCY Last update 01.12.2015_20:44:31
GLYCINE n-METHYLTRANSFERASE DEFICIENCY
  1. failure to thrive
  2. large liver
  3. Transaminases
  4. Methionine
  5. S-Adenosylmethionine

ADENOSINE KINASE DEFICIENCY Last update 01.12.2015_21:50:06
ADENOSINE KINASE DEFICIENCY
  1. seizures
  2. liver involvement (acute, chronic, hepatitis)
  3. hearing defect, deafness
  4. muscle weakness
  5. macrocephaly (large calvaria, >2 SD for age)
  6. cardiac involvement
  7. failure to thrive
  8. hypertelorism
  9. cholestasis
  10. hypotonia
  11. onset, infant
  12. S-Adenosylmethionine
  13. Adenosine
  14. Methionine
  15. S-Adenosylhomocysteine
  16. Homocysteine

INTOXICATION SULCOTRIONE DD Last update 14.05.2016_11:05:41
INTOXICATION SULCOTRIONE DD
  1. Tyrosine
  2. hypotension
  3. renal failure, acute/chronic
  4. vomiting

Progressive external ophthalmoplegia Last update 03.12.2015_15:20:29
Progressive external ophthalmoplegia
  1. gastrointestinal dysmotility

Thymidine phosphorylase defi ciency Last update 03.12.2015_15:29:29
Thymidine phosphorylase defi ciency
  1. gastrointestinal dysmotility

Mitochondrial ribonucleotide reductase subunit 2 defi ciency Last update 03.12.2015_15:31:47
Mitochondrial ribonucleotide reductase subunit 2 defi ciency
  1. gastrointestinal dysmotility

CHILDHOOD VASCULITIS DD Last update 16.05.2016_17:34:56
CHILDHOOD VASCULITIS DD
  1. petechiae
  2. skin rushes
  3. fever
  4. conjunctivitis

PEDIATRIC CATARACT DD Last update 06.12.2015_13:55:46
PEDIATRIC CATARACT DD
  1. cataract

INFANTILE LIVER FAILURE SYNDROME Last update 06.12.2015_18:39:44
INFANTILE LIVER FAILURE SYNDROME
  1. liver failure
  2. onset, infant
  3. onset, child
  4. vomiting
  5. jaundice
  6. lethargy, drowsiness, malaise or sleep disorder
  7. hypoglycemia
  8. Transaminases
  9. hyperammonemia
  10. Ammonia

MITOCHONDRIAL DNA DEPLETION SYNDROME 1 Last update 06.12.2015_21:19:07
MITOCHONDRIAL DNA DEPLETION SYNDROME 1
  1. ptosis (drooping eyelid)
  2. onset, adult
  3. ophthalmoplegia
  4. gastrointestinal dysmotility
  5. leukoencephalopathy
  6. peripheral neuropathy
  7. weight loss
  8. hearing defect, deafness
  9. malabsorption
  10. diarrhea
  11. vomiting
  12. muscle weakness
  13. lactic acidosis
  14. Thymidine
  15. Lactate
  16. Deoxyuridine

MITOCHONDRIAL DNA DEPLETION SYNDROME 2 Last update 17.01.2016_12:42:44
MITOCHONDRIAL DNA DEPLETION SYNDROME 2
  1. hypotonia
  2. muscle weakness
  3. respiratory insufficiency
  4. defect of walking, running, rising or climbing
  5. lactic acidosis
  6. aminoaciduria, generalized
  7. onset, child
  8. Lactate
  9. Creatinine kinase

CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ip Last update 02.01.2016_13:05:52
CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ip
  1. Asialotransferrin
  2. hypotonia
  3. seizures
  4. early death
  5. motor retardation
  6. hearing defect, deafness
  7. strabismus
  8. feeding difficulties, poor feeding
  9. vomiting
  10. mental retardation
  11. speech difficulties
  12. opisthotonus
  13. inverted nipples
  14. onset, infant
  15. temperature instability
  16. cerebral atrophy
  17. microcephaly
  18. dysmorphism
  19. Lactate
  20. Prolactin
  21. Disialotransferrin

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IqCDG-Iq Last update 02.01.2016_14:03:51
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IqCDG-Iq
  1. hypotonia
  2. mental retardation
  3. nystagmus
  4. ataxia
  5. ichthyosis
  6. cataract
  7. chorioretinal colobomata
  8. optic atrophy
  9. impaired visual acuity
  10. dysmorphism
  11. failure to thrive
  12. Sialotransferrins (isoelectrofocussing)

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi CDG-IIi Last update 02.01.2016_16:45:42
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi CDG-IIi
  1. Sialotransferrins (isoelectrofocussing)
  2. seizures
  3. hypotonia
  4. microcephaly
  5. mental retardation
  6. large liver
  7. hearing defect, deafness
  8. blindness, visual loss, visual impairment
  9. strabismus
  10. kyphoskoliosis

3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME Last update 03.01.2016_20:04:29
3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME
  1. onset, child
  2. 2-Methylglutaconic acid
  3. hearing defect, deafness
  4. encephalopathy
  5. seizures
  6. optic atrophy
  7. microcephaly
  8. myoclonus
  9. failure to thrive
  10. feeding difficulties
  11. hypotonia
  12. mental retardation
  13. motor retardation
  14. hypertonia, spasticity
  15. dystonia
  16. cerebellar atrophy or hypoplasia
  17. infections (severe or recurrent)
  18. extrapyramidal signs
  19. Transaminases
  20. Ammonia
  21. Glucose
  22. Lactate
  23. alpha-Fetoprotein
  24. onset, infant

3-METHYLGLUTACONIC ACIDURIA, TYPE VII Last update 03.01.2016_20:42:27
3-METHYLGLUTACONIC ACIDURIA, TYPE VII
  1. cataract
  2. neutropenia (decreased neutrophils)
  3. microcephaly
  4. 3-Methylglutaconic acid
  5. hypotonia
  6. feeding difficulties
  7. dysmorphism
  8. extrapyramidal signs
  9. seizures
  10. cerebellar atrophy or hypoplasia
  11. cerebral atrophy
  12. onset, newborn
  13. early death
  14. infections (severe or recurrent)

MITOCHONDRIAL DNA DEPLETION SYNDROME 5 Last update 17.01.2016_11:36:20
MITOCHONDRIAL DNA DEPLETION SYNDROME 5
  1. failure to thrive
  2. hearing defect, deafness
  3. ophthalmoplegia
  4. strabismus
  5. hypotonia
  6. muscle weakness
  7. encephalopathy
  8. irritability
  9. lactic acidosis
  10. onset, infant
  11. Amino acids, urine
  12. Methylmalonic acid
  13. 2-Methylglutaconic acid
  14. Creatinine kinase
  15. mental retardation
  16. motor retardation
  17. dystonia

MITOCHONDRIAL DNA DEPLETION SYNDROME 8A Last update 17.01.2016_12:40:32
MITOCHONDRIAL DNA DEPLETION SYNDROME 8A
  1. failure to thrive
  2. feeding difficulties
  3. ophthalmoplegia
  4. hypotonia
  5. mental retardation
  6. seizures
  7. onset, infant
  8. lactic acidosis
  9. tubulopathy
  10. renal dysfunction
  11. progressive neurologic defect
  12. Lactate
  13. Amino acids, urine
  14. eye movements, abnormal
  15. abdominal esophageal perforation
  16. infections (local, abscesses)

CYCLIC VOMITING SYNDROME DD Last update 14.05.2016_10:58:21
CYCLIC VOMITING SYNDROME DD
  1. vomiting
  2. onset, child
  3. headache (severe, recurrent or occipital, migraine)

UROCANASE DEFICIENCY Last update 16.05.2016_15:33:29
UROCANASE DEFICIENCY
  1. ataxia
  2. tremor or twitching
  3. short stature
  4. mental retardation
  5. nystagmus
  6. Urocanic Acid
  7. Urocanoylglycine

FORMIMINOTRANSFERASE DEFICIENCY Last update 16.05.2016_15:59:33
FORMIMINOTRANSFERASE DEFICIENCY
  1. Formiminoglutamic acid (FIGLU)
  2. Hydantoin-5-propionic acid
  3. anemia
  4. mental retardation
  5. no clinical signs or symptoms
  6. hypotonia

ARTEFACTS-PHARMACEUTICAL PRODUCTS, INTERFERENCE IN AMINOACID AND ORGANIC ACID ANALYSIS: PARACETAMOL (ACETAMINOPHEN) DD Last update 15.07.2016_12:33:46
ARTEFACTS-PHARMACEUTICAL PRODUCTS, INTERFERENCE IN AMINOACID AND ORGANIC ACID ANALYSIS: PARACETAMOL (A
  1. metabolic acidosis
  2. 5-Oxoproline