inborn error of metabolism
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- 4-hydroxybutyricaciduria
- abnormal thyroid hormone metabolism (ATHYHM)
- aceruloplasminemia (ceruloplasmin deficiency)
- acyl-CoA dehydrogenase family member type 9 (ACAD9) deficiency
- adiponectin deficiency
- AICA-ribosuria (AICA-ribosiduria)
- amino acid inborn error of metabolism
- Andermann syndrome (Charlevoix' disease)
- APRT deficiency (2,8-dihydroxyadenine urolithiasis)
- arginosuccinicaciduria
- aromatic-L-amino-acid decarboxylase deficiency (AADC deficiency); L-dopa decarboxylase deficiency
- ATPase synthase deficiency; ATPase deficiency; ATPAF2 deficiency
- bilirubin metabolism, inborn error
- biotinidase deficiency (BTD deficiency); late-onset multiple carboxylase deficiency
- carbohydrate inborn error of metabolism
- carnitine deficiency
- carnitine-acylcarnitine translocase deficiency (CACT deficiency)
- coenzyme Q deficiency (ubiquinone deficiency)
- combined oxidative phosphorylation deficiency (COXPD)
- congenital bile acid synthesis defect
- corticosteroid-binding globulin deficiency (CBG deficiency)
- cystic fibrosis (CF, mucoviscidosis)
- cystinosis
- cystinuria
- D-glyceric acidemia
- dihydropyrimidinase deficiency
- euthyroid dystransthyretinemic hyperthyroxinemia
- familial dysalbuminemic hyperthyroxinemia
- familial hypomagnesemia
- GABA aminotransaminase deficiency (GABA-AT deficiency)
- glutaric acidemia
- GRACILE syndrome
- GTP cyclohydrolase deficiency
- guanidinoacetate methyltransferase deficiency (GAMT deficiency)
- hereditary folate malabsorption
- hereditary LDHB deficiency
- holocarboxylase synthetase deficiency
- homocystinuria
- hydroxykynureninuria; xanthurenic aciduria; kynureninase deficiency
- hyperlysinemia
- inborn error of copper metabolism
- inosine triphosphate pyrophosphohydrolase deficiency; ITP pyrophosphohydrolase deficiency; ITPA deficiency
- lipid metabolism, inborn error; lipid storage disease; lipidosis
- lysosomal storage disease
- methylenetetrahydrofolate reductase deficiency
- mitochondrial phosphate carrier deficiency
- molybdenum cofactor deficiency
- organic aciduria
- ornithine hyperammonemia; ornithine carbamoyltransferase deficiency
- orotic aciduria
- peroxisomal disorder
- phosphoribosylpyrophosphate synthetase superactivity (PRPS-related gout)
- porphyria
- pseudocholinesterase deficiency; butyrylcholinesterase deficiency
- pyridoxine-dependent epilepsy; neonatal epileptic encephalopathy; pyridoxine-5'-phosphate oxidase deficiency; PNPO deficiency
- pyruvate dehydrogenase deficiency
- pyruvate dehydrogenase phosphatase deficiency (PDP deficiency)
- pyruvate kinase hyperactivity (high red cell ATP syndrome)
- sarcosinemia
- sulfocysteinuria; isolated sulfite oxidase deficiency
- thiamine-responsive megaloblastic anemia syndrome (Rodgers syndrome)
- thromboxane synthase deficiency
- thyroxine-binding globulin deficiency (TBG deficiency)
- trimethylaminuria (fish-odor syndrome)