Inborn Error Of Metabolism
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More Specific Terms
- 4-hydroxybutyricaciduria
- abnormal thyroid hormone metabolism (ATHYHM)
- acyl-CoA dehydrogenase family member type 9 (ACAD9) 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)
- ATPase synthase deficiency; ATPase deficiency; ATPAF2 deficiency
- biotinidase deficiency (BTD deficiency); late-onset multiple carboxylase deficiency
- carbohydrate inborn error of metabolism
- carnitine deficiency
- carnitine-acylcarnitine translocase deficiency (CACT deficiency)
- chronic idiopathic jaundice (Dubin-Johnson syndrome)
- combined oxidative phosphorylation deficiency (COXPD)
- congenital bile acid synthesis defect
- Crigler-Najjar syndrome
- cystic fibrosis (CF, mucoviscidosis)
- cystinosis
- cystinuria
- D-glyceric acidemia
- dihydropyrimidinase deficiency
- enzyme deficiency
- familial hypomagnesemia
- GABA aminotransaminase deficiency (GABA-AT deficiency)
- Gilbert's disease/syndrome
- glutaric acidemia
- GRACILE syndrome
- GTP cyclohydrolase deficiency
- guanidinoacetate methyltransferase deficiency (GAMT deficiency)
- hereditary folate malabsorption
- hereditary LDHB deficiency
- holocarboxylase synthetase deficiency
- homocystinuria
- hyperlysinemia
- inborn error of copper metabolism
- inosine triphosphate pyrophosphohydrolase deficiency; ITP pyrophosphohydrolase deficiency; ITPA deficiency
- lipid metabolism, inborn error (lipid storage disease)
- lysosomal storage disease
- methylenetetrahydrofolate reductase deficiency
- methylmalonic acidemia/aciduria
- mitochondrial phosphate carrier deficiency
- molybdenum cofactor deficiency
- ornithine hyperammonemia
- 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 kinase hyperactivity (high red cell ATP syndrome)
- rotor syndrome
- sarcosinemia
- sulfocysteinuria; isolated sulfite oxidase deficiency
- thiamine-responsive megaloblastic anemia syndrome (Rodgers syndrome)
- thromboxane synthase deficiency
- trimethylaminuria (fish-odor syndrome)
- tubulopathy, encephalopathy, & liver failure due to complex III deficiency
- Wernicke's syndrome (Wernicke's encephalopathy)
More General Terms
