Specific

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) 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)

General

chronic metabolic disease enzyme deficiency genetic disease