onset, newborn

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onset, newborn

Associated Diseases	Laboratory Findings	Clinical Symptoms
11-BETA-HYDROXYLASE DEFICIENCY (CYP11B1) MIM:202010 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY MIM:222745 2-AMINOADIPIC ACIDURIA MIM:204750 2-HYDROXYGLUTARIC ACIDEMIA (L) MIM:236792 2-HYDROXYGLUTARIC ACIDURIA (D) MIM:600721 2-METHYL-3-HYDROXYBUTYRYL-CoA DEHYDROGENASE DEFICIENCY MIM:300438 27-HYDROXYLASE DEFICIENCY MIM:213700 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY MIM:246450 3-METHYLGLUTACONIC ACIDURIA (TYPE II), X-LINKED MIM:302060 3-METHYLGLUTACONIC ACIDURIA (TYPE IV) MIM:250951 3-METHYLGLUTACONIC ACIDURIA, NOVEL SUBTYPE ABETALIPOPROTEINEMIA, BASSEN-KORNZWEIG-SYNDROME, ACANTHOCYTOSIS (ABL) MIM:200100 ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY (APRT) MIM:102600 ADENOSINE DEAMINASE (ADA) MIM:102700 ADRENOLEUKODYSTROPHY, NEONATAL MIM:202370 ALPERS DISEASE MIM:203700 ALPHA-1-ANTITRYPSIN DEFICIENCY (AATD) MIM:107400 AMINOACYLASE I DEFICIENCY MIM:609924 ARGININEMIA. HYPERARGININEMIA, ARGINASE DEFICIENCY MIM:207800 ARGININOSUCCINIC ACIDURIA (ASL) MIM:207900 ASPHYXIA [DD] BENIGN INFANTILE MITOCHONDRIAL MYOPATHY (BIMM) BENIGN INFANTILE MITOCHONDRIAL MYOPATHY AND CARDIOMYOPATHY (BIMC) BETA-KETOTHIOLASE DEFICIENCY MIM:203750 BIOTINIDASE DEFICIENCY MIM:253260 CANAVAN DISEASE MIM:271900 CARBAMOYL PHOSPHATE SYNTHETASE DEFICIENCY (CPS) MIM:237300 CARNITINE PALMITOYL TRANSFERASE DEFICIENCY (II) MIM:255110 CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY MIM:212138 CHONDRODYSPLASIA PUNCTATA, CONRADI HUNERMANN MIM:118650 CITRULLINEMIA TYPE I MIM:215700 CONGENITAL ALVEOLAR PROTEINOSIS MIM:265120 CONGENITAL CHLORIDE DIARRHEA MIM:214700 CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ie MIM:608799 CONGENITAL DISORDER OF GLYCOSYLATION CDG-If MIM:604041 CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ig MIM:607143 CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIa MIM:212066 CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ik MIM:608540 CONGENITAL ERYTHTOPOIETIC PORPHYRIA (CEP, GÜNTHER DISEASE) MIM:263700 CONGENITAL SECRETORY DIARRHOEA MIM:270420 CRIGLER-NAJJAR SYNDROME TYPE I MIM:218800 CRIGLER-NAJJAR SYNDROME TYPE II MIM:606785 CYSTIC FIBROSIS (CF) MIM:219700 CYTOCHROME-C-OXIDASE DEFICIENCY MIM:220110 D-GLYCERIC ACIDURA MIM:220120 DELTA-AMINOLEVULINIC ACID DEHYDRATASE-DEFICIENT PORPHYRIA (ALAD) MIM:125270 EPILEPSY, BENIGN NEONATAL MIM:121200 FAMILIAL MULTIPLE COAGULATION FACTOR DEFICIENCY MIM:277450 FARBER DISEASE MIM:228000 FRUCTOSE-1,6-DIPHOSPHATASE DEFICIENCY MIM:229700 FUMARIC ACIDURIA MIM:136850 GALACTOSEMIA MIM:230400 GALACTOSIALIDOSIS MIM:256540 GLUCOSE-GALACTOSE MALABSORPTION MIM:606824 GLUTARIC ACIDURIA II MIM:231680 GLUTATHIONE SYNTHETASE DEFICIENCY MIM:266130 GLYCEROL INTOLERANCE SYNDROM GLYCEROL KINASE DEFICIENCY MIM:307030 GLYCOGEN SYNTHETASE DEFICIENCY MIM:240600 GLYCOGENOSIS, TYPE IA. VON GIERKE DISEASE MIM:232200 GLYCOGENOSIS, TYPE IB MIM:232220 GLYCOGENOSIS, TYPE II. INFANTILE ONSET. POMPE DISEASE MIM:232300 GLYCOGENOSIS, TYPE IV. AMYLOPECTINOSIS, ANDERSON DISEASE MIM:232500 GLYCOGENOSIS, TYPE IXC MIM:604549 GLYCOGENOSIS, TYPE VI. HERS DISEASE MIM:232700 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1 MIM:267700 HOMOCYSTINURIA DUE TO DEFECT OF N(5,10)-METHYLENE THF DEFICIENCY MIM:236250 HYPER BETA-ALANINEMIA MIM:237400 HYPEREKPLEXIA MIM:149400 HYPERGLYCINEMIA, NON-KETOTIC MIM:605899 HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA [HHH-SYNDROME] MIM:238970 HYPERPHENYLALANINEMIA DUE TO 6-PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY (PTPS) MIM:261640 HYPERPIPECOLATEMIA MIM:239400 HYPOADRENOCORTICISM, FAMILIAL MIM:240200 HYPOGLYCEMIA, FAMILIAL NEONATAL MIM:240800 HYPOTHYROIDISM, CONGENITAL MIM:218700 ISOVALERIC ACIDEMIA MIM:243500 JOUBERT SYNDROME MIM:213300 LACTASE DEFICIENCY, CONGENITAL MIM:223000 LACTOSE INTOLERANCE MIM:150220 LETHAL INFANTILE MITOCHONDRIAL DISEASE (LIMD) LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY (LCAD) MIM:201460 LONG-CHAIN-3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (LCHAD) MIM:143450 LYSINURIC PROTEIN INTOLERANCE (LPI) MIM:222700 MAPLE SYRUP URINE DISEASE MIM:248600 MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY (MCAD) MIM:201450 METHYLMALONIC ACIDURIA (MMA) MIM:251000 METHYLMALONIC ACIDURIA, cblA TYPE MIM:251100 METHYLMALONIC ACIDURIA, cblB TYPE MIM:251110 MITOCHONDRIAL DNA DEPLETION SYNDROME MIM:251880 MOLYBDENIUM CO-FACTOR DEFICIENCY MIM:252150 MUCOLIPIDOSIS II MIM:252500 MUCOLIPIDOSIS IV MIM:252650 MULTIPLE CARBOXYLASE DEFICIENCY, NEONATAL OR EARLY ONSET FORM MIM:253270 MULTIPLE SULFATASE DEFICIENCY (MSD) MIM:272200 N-ACETYLGLUTAMATE SYNTHETASE DEFICIENCY. NAGS DEFICIENCY MIM:237310 NADH-DEPENDENT METHEMOGLOBIN REDUCTASE DEFICIENCY MIM:250800 NEONATAL HEMOCHROMATOSIS MIM:231100 NEONATAL INTRAHEPATIC CHOLESTASIS MIM:605814 NEUROBLASTOMA MIM:256700 OCULOCEREBRORENAL SYNDROME OF LOWE MIM:309000 ORNITHINE TRANSCARBAMYLASE DEFICIENCY (OTC) MIM:311250 PATENT DUCTUS VENOSUS MIM:601466 PELIZAEUS MERZBACHER DISEASE MIM:312080 PERSISTANT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY, PHHI MIM:256450 PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY 1 (PEPCK1) MIM:261680 PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY 2 (PEPCK2) MIM:261650 PRIMARY HYPOMAGNESEMIA MIM:248250 PROPIONIC ACIDEMIA MIM:606054 PURINE NUCLEOSIDE PHOSPHORYLASE DIFICIENCY MIM:164050 PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY MIM:610090 PYRIDOXINE DEPENDENCY WITH SEIZURES MIM:266100 PYRUVATE CARBOXYLASE DEFICIENCY MIM:266150 PYRUVATE DEHYDROGENASE DEFICIENCY (E1) MIM:312170 PYRUVATE DEHYDROGENASE DEFICIENCY (E2) MIM:245348 PYRUVATE DEHYDROGENASE DEFICIENCY (E3) MIM:246900 PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY MIM:245349 PYRUVATE KINASE DEFICIENCY MIM:266200 RESPIRATORY CHAIN DEFICIENCIES RESPIRATORY DISTRESS SYNDROME, HYALINE MEMBRANE DISEASE [DD] S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY MIM:180960 SENGERS SYNDROME MIM:212350 SEPSIS, NEONATAL [DD] SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY (SCAD) MIM:201470 SIALIC ACID STORAGE DISEASE, INFANTILE TYPE MIM:269920 SIALIDOSIS TYPE II MIM:256550 SUCCINYL CoA: 3-KETOACID CoA TRANSFERASE DEFICIENCY MIM:245050 SULFITE OXIDASE DEFICIENCY MIM:272300 TRANSIENT NEONATAL DIABETES MELLITUS MIM:601410 TRIFUNCTIONAL PROTEIN DEFICIENCY MIM:600890 TRIHYDROXYCOPROSTANIC ACIDEMIA MIM:214950 TYROSINEMIA I MIM:276700 UREIDOPROPIONASE DEFICIENCY MIM:210100 VERY-LONG-CHAIN ACYL CoA DEHYDROGENASE DEFICIENCY (VLCAD) MIM:201475 ZELLWEGER SYNDROME MIM:214100	% Biopterin 11-beta-Hydroxylase 11-Deoxycorticosterone 11-Deoxycortisol 12-Hydroxy-eicosatetraenoic acid 14C-Acetoacetate oxidation 15-Hydroxy-eicosatetraenoic acid 2 8-Dihydroxyadenine 2-Aminoadipic acid 2-Aminopiperid-2-one 2-Enoyl-CoA hydratase 2-Ethylhydracrilic acid 2-Hydroxy-3-methylvaleric acid 2-Hydroxybutyric acid 2-Hydroxyglutaric acid (D) 2-Hydroxyglutaric acid (L) 2-Hydroxyisocaproic acid 2-Hydroxyisovaleric acid 2-Methyl-3-hydroxybutyric acid 2-Methyl-cis-aconitic acid 2-Methylacetoacetic acid 2-Methylbutyrylglycine 2-Oxo-3-methylvaleric acid 2-Oxo-n-caproic acid 2-Oxoglutaric acid 2-Oxoisocaproic acid 2-Oxoisovaleric acid 27-Hydroxylase 3-Aminoisobutyric acid 3-Hydroxy-3-methylglutaric acid 3-Hydroxy-3-methylglutaryl-CoA lyase 3-Hydroxyacyl-CoA dehydrogenase 3-Hydroxyadipic acid 3-Hydroxybutyrate + Acetoacetate 3-Hydroxybutyrate/Acetoacetate 3-Hydroxybutyric acid 3-Hydroxydicarboxylic acid 3-Hydroxyisovaleric acid 3-Hydroxyisovalerylcarnitine (C5-OH) 3-Hydroxyoleoylcarnitine (C18:1-OH) 3-Hydroxypalmitoylcarnitine (C16-OH) 3-Hydroxypropionic acid 3-Hydroxysebacic acid 3-Hydroxystearoylcarnitine (C18-OH) 3-Hydroxysuberic acid 3-Hydroxyvaleric acid 3-Ketoacid CoA transferase 3-Methoxy-4-hydroxymandelic acid 3-Methylcrotonylglycine 3-Methylglutaconic acid 3-Methylglutaric acid 3-Methylmalic acid 3-Oxoacyl-CoA thiolase 4-Hydroxy-3-methoxymandelic acid 4-Hydroxybutyric acid 4-Hydroxyisovaleric acid 4-Hydroxyphenylacetic acid 4-Hydroxyphenyllactic acid 4-Hydroxyphenylpyruvic acid 5 10-Methylenetetrahydrofolate reductase 5-Hydroxyhexanoic acid 5-Hydroxyindolacetic acid 5-Oxoproline 6-Methyluracil 6-Pyruvoyl tetrahydropterin synthase 7-Hydroxyoctanoic acid 8-iso-prostaglandin F2alpha Acanthocytosis Acetylcarnitine (C2) Acetyltryptophan Acid ceramidase Acyl-CoA dehydrogenase Acylcarnitin urine Acylcarnitine/carnitine ratio Adipic acid Adipic acid/3-Hydroxybutyric acid Adrenocorticotropic hormone (ACTH) Alanine Albumin Alkyl-dihydroxyacetone-phosphate synthase allo-Isoleucine alpha-1 4 Glucan-6-alpha-glucosyltransferase alpha-1 4-Glucosidase alpha-1-Antitrypsin alpha-Aminoadipic semialdehyde alpha-Fetoprotein alpha-Glucosidase alpha-Neuraminidase Aminoacylase I Ammonia Antithrombin III (AT III) Apolipoprotein Arginase Arginine Argininosuccinase Argininosuccinate synthetase Argininosuccinate Arylsulfatase A Arylsulfatase B Arylsulfatase C Aspartate aminotransferase (SGOT) Aspartoacylase Azelaic acid BCKAD complex beta-1 4-mannosyltransferase beta-Alanine beta-Aminoisobutyric acid beta-Galactosidase beta-Hexosaminidase beta-Ureidoisobutyrate beta-Ureidopropionate Bicarbonate Bile acid intermediates Bile acids total Bilirubin Biopterin bleeding time breath hydrogen test Butanon Butyryl/Isobutyrylcarnitine (C4) Butyrylglycine C24:0/C22:0 C26:0 C26:0/C22:0 C26:1 Calcium Carbamylphosphate synthetase Carbohydrate-deficient transferrins Carnitine palmitoyltransferase II Carnitine Carnitine-acylcarnitine translocase Chitotriosidase Chloride Cholestanol Cholesterol Citrate Citrulline Coagulopathy/Coagulation factors Complex I activity Complex II activity Complex III activity Complex IV activity conjunctival biopsy enlarged lysosomes Cortisol Creatine Creatinine kinase Creatinine CRP CT brain abnormalities [-] Cysteinyl leukotrienes (LTC4 LTD4 LTE4) Cystine Cystinylglycine Cytochrome c oxidase D-Glyceric acid Decadienoylcarnitine (C10:2) Decanoylcarnitine (C10) Decenedioic acid Decenoylcarnitine (C10:1) Delta-aminolevulinic acid dehydratase Delta-aminolevulinic acid Dicarboxylic acids urine Dihydroxyacetone-phosphate acyltransferase (DHAPAT) Dihydroxycholestanoic acid Disialotransferrin DNA Dodecanoylcarnitine (C12) ECG abnormalities [-] EEG abnormalities [-] Electron microscopy [-] EMG abnormalities [-] Ethylmalonic acid Ferric chloride reaction Ferritin Fibrinogen Free fatty acids Fructose 1 6 biphosphatase Fumaric acid Galactitol Galactose Galactose-1-phosphate uridyltransferase Galactose-1-phosphate gamma-Aminobutyric acid Glucose 6-phosphatase Glucose tolerance impaired Glucose Glutamic acid decarboxylase Glutamic acid Glutamate Glutamine Glutaric acid Glutathione synthetase Glutathione Glycerol Glycine cleavage enzyme Glycine Glycogen synthase Guanidinoacetate Guanosine Hemoglobine Heparan-N-sulfamidase Hexanoylcarnitine (C6) Hexanoylglycine Homoarginine Homocitrulline Homocysteine Homocystine Homovanillic acid Human growth hormone (hGH) Human growth hormone (hGH) Hydroxyproline Hypoxanthine Iduronate sulfatase Iduronide-2-sulfate sulfatase Immunoglobulines Immunreactive trypsin Inosine Insulin Insulin-like growth factor binding protein-1 (IGFBP-1) Insulin/Glucose Iron Isobutyrylglycine Isoleucine Isovaleryl/2-Methylbutyrylcarnitine (C5) Isovalerylasparagine Isovalerylglycine Isovalerylhistidine Isovaleryllysine Isovaleryltryptophan Ketone bodies Lactase Lactate dehydrogenase (LDH) Lactate Lactate/Creatinine ratio Lactate/Pyruvate ratio Lactose Leucine Liver phosphorylase Long chain acyl carnitines Long chain acyl-CoA dehydrogenase Long chain dicarboxylic acids Long-chain 3-hydroxyacyl-CoA dehydrogenase Long-chain acyl-CoAs Low-density lipoprotein (LDL) Lymphocytes Lymphocytes vacuoles Lysine Magnesium Malondialdehyde 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 [-] MRI liver abnormalities [-] MRS brain abnormalities [-] Myoglobin N-acetylalanine N-acetylamethionine N-Acetylaspartic acid N-Acetylgalactosamin-6-sulfate sulfatase N-Acetylglucosamine-6-sulfate sulfatase N-Acetylglukosaminyltransferase II N-Acetylglutamate synthetase N-acetylglutamate N-acetylglycine N-acetylisoleucine N-acetylleucine N-acetylserine N-acetylthreonine N-Acetyltyrosine N-acetylvaline Neopterin Neuraminidase no specific laboratory findings Nucleoside phosphorylase Octanoyl-/Decanoylcarnitine (C8/C10) Octanoylcarnitine (C8) Octenedioic acid Oleoylcarnitine (C18:1) Oligosaccharides Ornithine Orotic acid Palmitoylcarnitine (C16) pCO2 Peroxisomal 3-oxoacyl-CoA thiolase Peroxisomal Acyl-CoA oxidase Peroxisomal bifunctional enzyme Peroxisomes liver pH Phenylalanine Phenylpropionylglycine Phosphoenolpyruvate carboxykinase Phosphorus inorganic Phosphorylase kinase Phytanic acid oxidation Phytanic acid Pimelic acid Pipecolic acid Pipecolic oxidase Plasmalogens biosynthesis Porphyrins Potassium Pristanic acid Proline Propionic acid Propionyl CoA carboxylase Propionylcarnitine (C3) Propionylglycine Protein total serum Protein total spinal fluid Protein urine Pseudohypertriglyceridemia Pyruvate carboxylase Pyruvate dehydrogenase E1 complex Pyruvate kinase Pyruvate Pyruvic acid reducing substances urine (Clinitest) Retikulocytes S-Adenosylhomocysteine hydrolase S-Adenosylhomocysteine S-Adenosylmethionine S-Sulfocysteine S100B protein Sebacic acid Serum acid phosphatase Sialic acid Sialyloligosaccharides Sodium Stearoylcarnitine (C18) Suberic acid Suberylglycine Succinate Succinylacetone Sulfate Sulfite oxidase Sulfite Sulfocysteine Taurine Tetradecadienoylcarnitine (C14:2) Tetradecanoylcarnitine (C14) Tetradecenoic acid Tetradecenoylcarnitine (C14:1) Tetrahydro-11-deoxycorticosterone Tetrahydro-11-deoxycortisol Tetrasialotransferrin Thiosulfate Threonine Thrombocytes Platelets Thyroid-stimulating hormone (TSH) Thyroxine (T4) Thyroxine binding globuline (TBG) Tiglyl/3-Methylcrotonylcarnitine (C5:1) Tiglylglycine Transaminases Transferrin Triglycerides Trihydroxycholestanoic acid Trihydroxycoprostanic acid Triiodthyronine Tyrosine UDP-glucuronyltransferase UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine ultrasound cranial abnormalities [-] Uracil Urea nitrogen Uric acid Uric acid/creatinine Uroporphyrinogen III cosynthase Valine VER abnormal [-] Very-long-chain acyl-CoA dehydrogenase Very-long-chain fatty acid oxidation Very-long-chain fatty acids Vitamin A Vitamin D Vitamin E Xanthine dehydrogenase Xanthine	abdominal distension abnormal movement adrenal atrophy (autopsy) adrenal insufficiency alopecia Amino acid, spinal fluid Amino acids, plasma Amino acids, urine anemia angiokeratoma anorexia apnea areflexia ascites ataxia atherosclerosis athetosis basal ganglia, changes behavior, abnormal or bizarre, confusion behavior, autism or autistic-like behavior, hyperactive, restless birthweight low (small for gestational age) bleeding tendencies, hemorrhages blindness, visual loss, visual impairment bone fractures bone marrow abnormality brain, cortical or paraventricular cysts broad thumbs brown colored urine buphthalmus cardiac arrest cardiac arrhythmia, dysrhythmia cardiac involvement cardiomegaly cardiomyopathy cataract cerebellar atrophy or hypoplasia cerebral atrophy cerebral edema cherry-red spot on retinal macula cholestasis chorea or athetosis chorioretinal colobomata chorioretinitis cirrhosis or fibrosis of liver cleft eyelid (coloboma) clitoral hypertrophy coarse facial features coma congenital heart defect conjunctivitis constipation contractures, joints corneal clouding corneal deposits corpus callosum, agenesis/hypoplasia cortical or cerebral atrophy cryptorchism cyanosis decreased body hair decreased muscle volume, atrophy or hypoplasia defect of adrenal gland or function defect of deep tendon reflexes defect of thyroid gland defect of walking, running, rising or climbing dehydration demyelinisation diabetes mellitus diarrhea dislocated lens (ectopia lentis) dwarfism dysarthria dysmorphism dysostosis multiplex dystonia early death ectropion eczematoid skin rush edema emphysema encephalopathy enophthalmus epicanthus or medial eyelid fold erythrodontia Erythropoietin [+] exaggerated startle reflex exercise intolerance extrapyramidal signs eye movements, abnormal facial nerve palsy facies, cherubic (dolls face) failure to thrive Fanconi syndrome fasiculations fatigue, severe or unusual feeding difficulties feeding difficulties, poor feeding fetal akinesia/hypokinesia sequence fever flat depressed nasal bridge (saddle nose) gallstones, cholelithiasis gastrointestinal hemorrhage (bleeding) genital hypoplasia genitalia, ambigous gingiva, hyperplastic glaucoma glucosuria gout great toes growth retardation gynecomastia hair loss hair, abnormal (thin, brittle) headache (severe, recurrent or occipital, migraine) hearing defect, deafness heart involvement HELLP syndrome hemangioma hematemesis hematuria hemiparesis/hemiparetic cerebral palsy hemolysis hepatoma hernia high arched palate high forehead hip dysplasia hoarse cry hydrocephalus hydrops fetalis hyperaldosteronism hyperammonemia hyperglycemia hyperinsulinism hyperkeratosis hyperpigmentation hyperreflexia hypersalivation hypertelorism hypertension hyperthermia hypertonia, spasticity hypertrichosis hypoglycemia hypopigmentation hyporeflexia hypospadia hypothermia hypotonia ichthyosis ileus impaired visual acuity increased body hair increased weight for age, height and sex (>2 SD) infantile spasms infections (local, abscesses) infections (severe or recurrent) infections (urinary tract) inguinal hernia interstitial pneumonitis irritability jaundice joint stiffness joint swelling kernicterus ketosis kyphoskoliosis lactic acidosis large kidneys large liver large mid-face (broad, prominent) large spleen lens opacities lethargy, drowsiness, malaise or sleep disorder leukoencephalopathy limb abnormalities, limb deformities liver carcinoma liver failure liver involvement (acute, chronic, hepatitis) liver, fatty low set ears lung hypoplasia lymphopenia macrocephaly (large calvaria, >2 SD for age) macroglossia, large/protuding tongue malabsorption maple sirup or caramel odor masculinisation of the female maternal acute fatty liver of pregnancy melena mental retardation metabolic acidosis metabolic alkalosis metaphyseal dysplasia methemoglobinemia microcephaly micropenis microphthalmus micropolygyria motor retardation muscle cramps muscle stiffness muscle weakness myocardial infarction myoclonus myopathy myopathy, ragged red fibers myxedema nasal polyposis nausea nephrocalcinosis nephrosis neurological deterioration Neuron Specific Enolase (NSE) neutropenia (decreased neutrophils) night blindness no clinical signs or symptoms nodules, subcutaneous nose bleed nystagmus obstructive airway disease oculogyric crisis oligohydramnion (maternal) onset, adolescent onset, adult onset, child onset, fetus onset, infant onset, newborn ophthalmoplegia opisthotonus optic atrophy Organic acid, spinal fluid Organic acids, plasma Organic acids, urine osteoporosis pain, abdominal pain, bones pain, muscle pallor pancreatic insufficiency pancreatitis pancytopenia paraparesis/paraplegia pericardial effusion peripheral neuropathy petechiae photophobia or photosensitive defect in light-exposed area pigmentation, skin and sclera pili torti pleural effusions pneumonia polydactyly polyhydramnion (maternal) poor crying poor head control portal hypertension preeclampsia, maternal prematurity previous deaths progressive muscle defect progressive neurologic defect prominent abdomen prominent forehead pseudotumor cerebri ptosis (drooping eyelid) pulmonary alveolar proteinosis punctate calcifications pyloric stenosis pyramidal signs rancid, fishy or cabbage odor rectal prolaps recurrent or intermittent skin defect red colored urine renal cysts renal failure, acute/chronic renal tubular acidosis respiratory acidosis respiratory distress respiratory insufficiency retinal or macular degeneration retinitis pigmentosa retinopathy rhabdomyolysis rickets round facies (moon-face, broad) scoliosis seborrhoic skin rush seizures sepsis (E.coli) short neck short stature shortened gestation time shrill cry skeletal changes skin defects skin rushes skin, pigmentation skin, thickened Soluble interleukin 2 receptor (sCD25) spastic diplegia/quadriplegia speech development, delayed, abnormal spinal cord demyelinisation steatorrhea stool color strabismus stridor strokelike episodes sudden death swallowing difficulties sweating sweaty feet odor tachypnea, hyperpnea, dyspnea, respiratory distress temperature instability tetany thromboembolism thrombopenia, thrombocytopenia tomcat's urine odor tremor or twitching trichorrhexis nodosa tubulopathy umbilical hernia urolithiasis valvular heart disease vertebral changes virilisation vomiting weight loss X-ray, abnormalities xanthoma