Introduction
Pocket Metab
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Diseases
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Symptoms
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Lab Parameters
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BH4 Patient
This is the list of current selected symptoms or laboratory findings.
In order to reduce this list click on one of this.
pancreatitis
Associated Diseases
Laboratory Findings
Clinical Symptoms
3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY
MIM:246450
ALPHA-1-ANTITRYPSIN DEFICIENCY (AATD)
MIM:107400
APOLIPOPROTEIN C-II DEFICIENCY
MIM:207750
CARNITINE PALMITOYL TRANSFERASE DEFICIENCY (II)
MIM:255110
FAMILIAL LIPOPROTEIN LIPASE DEFICIENCY
MIM:238600
FANCONI-BICKEL SYNDROME
MIM:227810
GLUTARIC ACIDURIA II
MIM:231680
GLYCOGENOSIS, TYPE IA. VON GIERKE DISEASE
MIM:232200
HOMOCYSTINURIA, CYSTATHIONINE BETA-SYNTHASE DEFICIENCY
MIM:236200
ISOVALERIC ACIDEMIA
MIM:243500
LYSINURIC PROTEIN INTOLERANCE (LPI)
MIM:222700
MAPLE SYRUP URINE DISEASE
MIM:248600
METHYLMALONIC ACIDURIA (MMA)
MIM:251000
MITOCHONDRIAL-ENCEPHALOPATHY-LACTIC ACIDOSIS-STROKE (MELAS)
MIM:540000
PEARSON SYNDROM
MIM:557000
PROPIONIC ACIDEMIA
MIM:606054
RESPIRATORY CHAIN DEFICIENCIES
REYE SYNDROME
VALPROATE THERAPY: ANTICONVULASANT HYPERSENSITIVITY SYNDROME VALPROATE ASSOCIATED HEPATOTOXICITY
WILSON DISEASE
MIM:277900
2-Hydroxy-3-methylvaleric acid
2-Hydroxyglutaric acid (L)
2-Hydroxyisocaproic acid
2-Hydroxyisovaleric acid
2-Methyl-cis-aconitic acid
2-Methylbutyrylglycine
2-n-propyl-4-pentenoic acid
2-Oxo-3-methylvaleric acid
2-Oxoisocaproic acid
2-Oxoisovaleric acid
3-Aminoisobutyric acid
3-Hydroxy-3-methylglutaric acid
3-Hydroxy-3-methylglutaryl-CoA lyase
3-Hydroxybutyrate/Acetoacetate
3-Hydroxybutyric acid
3-Hydroxyisovaleric acid
3-Hydroxypropionic acid
3-Hydroxyvaleric acid
3-Methylcrotonylglycine
3-Methylglutaconic acid
3-Methylglutaric acid
3-Methylmalic acid
4-Hydroxybutyric acid
4-Hydroxyisovaleric acid
5-Hydroxyhexanoic acid
5-Oxoproline
Acetyltryptophan
Acylcarnitin urine
Adipic acid
Albumin
allo-Isoleucine
alpha-1-Antitrypsin
Ammonia
Amylase
Arginine
BCKAD complex
Bilirubin
bleeding time
Butyryl/Isobutyrylcarnitine (C4)
Calcium
Carnitine palmitoyltransferase II
Carnitine
Ceruloplasmin
Cholesterol
Chylomicrons
Citrulline
Coagulopathy/Coagulation factors
Complex I activity
Complex II activity
Complex III activity
Complex IV activity
Copper
Creatinine kinase
Creatinine
Cystathionine
Decanoylcarnitine (C10)
Dicarboxylic acids urine
Dodecanoylcarnitine (C12)
ECG abnormalities [-]
EEG abnormalities [-]
Ethylmalonic acid
Ferric chloride reaction
Ferritin
Galactose
Glucose 6-phosphatase
Glucose tolerance impaired
Glucose
Glutamine
Glutaric acid
Glycine
HDL cholesterol
Hemoglobine
Homocysteine
Homocystine
Human growth hormone (hGH)
Human growth hormone (hGH)
Hydroxyproline
Insulin
Isobutyrylglycine
Isoleucine
Isovaleryl/2-Methylbutyrylcarnitine (C5)
Isovalerylasparagine
Isovalerylglycine
Isovalerylhistidine
Isovaleryllysine
Isovaleryltryptophan
Ketone bodies
Lactate dehydrogenase (LDH)
Lactate
Lactate/Pyruvate ratio
Leucine
Leucocytes
Lipase
Lipoprotein lipase
Long chain acyl carnitines
Lysine
Methionine
Methylcitric acid
Methylfumaric acid
Methylglutarylcarnitine (C6DC)
Methylmalonic acid
Methylmalonyl CoA mutase
Methylmalonylcarnitine (C4DC)
Methylsuccinic acid
MRI brain abnormalities [-]
MRI brain gray matter abnormalities [-]
MRI brain white matter abnormalities [-]
MRS brain abnormalities [-]
Myoglobin
Oleoylcarnitine (C18:1)
Ornithine
Orotic acid
Palmitoylcarnitine (C16)
pCO2
pH
Phosphatase alkaline
Phosphorus inorganic
Potassium
Proline
Propionic acid
Propionyl CoA carboxylase
Propionylcarnitine (C3)
Propionylglycine
Protein urine
Pyruvate Pyruvic acid
Retikulocytes
Sebacic acid
Single Photon Emission Computed Tomography (SPECT) abnormalities [-]
Suberic acid
Tetradecanoylcarnitine (C14)
Thrombocytes Platelets
Thyroxine binding globuline (TBG)
Tiglylglycine
Transaminases
Triglycerides
Uric acid
Valine
Very low density lipoproteins (VLDL)
Amino acids, plasma
Amino acids, urine
aminoaciduria, generalized
anemia
aortic valvular disease
arachnodyctyly
arthritis
ataxia
atherosclerosis
behavior, abnormal or bizarre, confusion
behavior, autism or autistic-like
behavior, hyperactive, restless
birthweight low (small for gestational age)
bleeding tendencies, hemorrhages
bone fractures
bone marrow abnormality
brain, cortical or paraventricular cysts
brown colored urine
cardiac arrhythmia, dysrhythmia
cardiomegaly
cardiomyopathy
cataract
cerebral atrophy
cerebral vascular disease
cholestasis
cirrhosis or fibrosis of liver
coma
corneal deposits
cortical or cerebral atrophy
decreased body hair
decreased muscle volume, atrophy or hypoplasia
defect of adrenal gland or function
defect of deep tendon reflexes
defect of thyroid gland
dehydration
dermatitis
diabetes mellitus
diarrhea
dislocated lens (ectopia lentis)
dwarfism
dysarthria
dyskinesia
dysmorphism
dysphagia
dyspnea
early death
emphysema
encephalopathy
exercise intolerance
facies, cherubic (dolls face)
failure to thrive
Fanconi syndrome
feeding difficulties, poor feeding
fever
gastrointestinal hemorrhage (bleeding)
glaucoma
glucosuria
gout
growth retardation
hair, abnormal (thin, brittle)
headache (severe, recurrent or occipital, migraine)
hearing defect, deafness
heart involvement
hemiparesis/hemiparetic cerebral palsy
hemolysis
hepatoma
hydrocephalus
hyperammonemia
hyperglycemia
hypertonia, spasticity
hypoglycemia
hypoparathyreoidism
hypospadia
hypothermia
hypotonia
infantile spasms
inguinal hernia
interstitial pneumonitis
jaundice
Kayser-Fleischer Ring
ketosis
lactic acidosis
large kidneys
large liver
large spleen
lethargy, drowsiness, malaise or sleep disorder
leukoencephalopathy
lipemia retinalis
liver carcinoma
liver failure
liver involvement (acute, chronic, hepatitis)
liver, fatty
low set ears
macrocephaly (large calvaria, >2 SD for age)
maple sirup or caramel odor
mental retardation
metabolic acidosis
microcephaly
micropenis
motor retardation
muscle cramps
muscle weakness
myoclonus
myopathy
myopathy, ragged red fibers
myopia
nausea
nephrosis
neurological deterioration
neutropenia (decreased neutrophils)
night blindness
nose bleed
obstructive airway disease
onset, adolescent
onset, adult
onset, child
onset, infant
onset, newborn
ophthalmoplegia
optic atrophy
Organic acids, plasma
Organic acids, urine
osteodystrophy, renal
osteoporosis
pain, abdominal
pain, muscle
pancreatic insufficiency
pancreatitis
pancytopenia
pericardial effusion
pigmentation, skin and sclera
pneumonia
polyhydramnion (maternal)
portal hypertension
progressive neurologic defect
prominent abdomen
pseudobulbar palsy
ptosis (drooping eyelid)
pulmonary alveolar proteinosis
pyloric stenosis
recent memory loss
recurrent or intermittent skin defect
renal cysts
renal failure, acute/chronic
respiratory distress
retinal or macular degeneration
retinitis pigmentosa
rhabdomyolysis
rickets
seizures
short stature
shortened gestation time
shrill cry
skeletal changes
skin, brittle
spastic diplegia/quadriplegia
strokelike episodes
sweating
sweaty feet odor
tachypnea, hyperpnea, dyspnea, respiratory distress
tall stature
thromboembolism
thrombopenia, thrombocytopenia
tremor or twitching
tubulopathy
vomiting
X-ray, abnormalities
xanthoma
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