disease of metabolism__
genetic disease________|
                       inherited metabolic disorder
                        |__amino acid metabolic disorder  232 rec.
                            |__2-aminoadipic 2-oxoadipic aciduria 1 rec.
                            |__2-hydroxyglutaric aciduria 15 rec.
                            |   |__combined D-2- and L-2-hydroxyglutaric aciduria 8 rec.
                            |   |__D-2-hydroxyglutaric aciduria(+) 6 rec.
                            |   |__L-2-hydroxyglutaric aciduria 1 rec.
                            |__3-hydroxy-3-methylglutaryl-CoA lyase deficiency 1 rec.
                            |__3-hydroxyisobutryl-CoA hydrolase deficiency 2 rec.
                            |__3-methylcrotonyl-CoA carboxylase deficiency 3 rec.
                            |   |__3-methylcrotonyl-CoA carboxylase 1 deficiency 1 rec.
                            |   |__3-methylcrotonyl-CoA carboxylase 2 deficiency 2 rec.
                            |__adenylosuccinase lyase deficiency 1 rec.
                            |__alkaptonuria 2 rec.
                            |__argininosuccinic aciduria 2 rec.
                            |__beta-ketothiolase deficiency 1 rec.
                            |__branched-chain keto acid dehydrogenase kinase deficiency 1 rec.
                            |__Brunner Syndrome 1 rec.
                            |__cerebral creatine deficiency syndrome 8 rec.
                            |   |__AGAT deficiency
                            |   |__cerebral creatine deficiency syndrome 1 8 rec.
                            |   |__guanidinoacetate methyltransferase deficiency
                            |__congenital glutamine deficiency 2 rec.
                            |__congenital nonspherocytic hemolytic anemia 7 1 rec.
                            |__cystathioninuria 1 rec.
                            |__cystinuria 11 rec.
                            |__developmental and epileptic encephalopathy 116 2 rec.
                            |__dicarboxylic aminoaciduria 1 rec.
                            |__dimethylglycine dehydrogenase deficiency 2 rec.
                            |__diphthamide deficiency syndrome 3 rec.
                            |   |__diphthamide deficiency syndrome 1 1 rec.
                            |   |__diphthamide deficiency syndrome 2 1 rec.
                            |   |__neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties 1 rec.
                            |__familial hypertryptophanemia 1 rec.
                            |__fumarase deficiency 4 rec.
                            |__gamma-amino butyric acid metabolism disorder 2 rec.
                            |   |__GABA aminotransferase deficiency 1 rec.
                            |   |__homocarnosinosis
                            |   |__succinic semialdehyde dehydrogenase deficiency 1 rec.
                            |__gamma-glutamyl transpeptidase deficiency 4 rec.
                            |__glutathione synthetase deficiency 2 rec.
                            |   |__congenital nonspherocytic hemolytic anemia 6 2 rec.
                            |   |__glutatione synthetase deficiency with 5-oxoprolinuria 2 rec.
                            |__glycine encephalopathy 3 rec.
                            |   |__glycine encephalopathy 1 1 rec.
                            |   |__glycine encephalopathy 2 1 rec.
                            |__Hartnup disease 2 rec.
                            |__hawkinsinuria 1 rec.
                            |__histidine metabolism disease
                            |   |__histidinemia
                            |   |__urocanase deficiency
                            |__HMG-CoA synthase 2 deficiency 1 rec.
                            |__homocystinuria 8 rec.
                            |__homocystinuria-megaloblastic anemia cblE type 1 rec.
                            |__homocystinuria-megaloblastic anemia cblG type 2 rec.
                            |__hydroxykynureninuria
                            |__hyperhomocysteinemia
                            |__hyperlysinemia 1 rec.
                            |__hypermethioninemia 5 rec.
                            |   |__glycine N-methyltransferase deficiency 1 rec.
                            |   |__hypermethioninemia due to adenosine kinase deficiency 3 rec.
                            |   |__hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase 1 rec.
                            |__hyperprolinemia 7 rec.
                            |   |__hyperprolinemia type 1 2 rec.
                            |   |__hyperprolinemia type 2 5 rec.
                            |__hypervalinemia and hyperleucine-isoleucinemia 2 rec.
                            |__leucine-sensitive hypoglycemia of infancy 11 rec.
                            |__lysinuric protein intolerance 2 rec.
                            |__mitochondrial short-chain enoyl-CoA hydratase 1 deficiency 5 rec.
                            |__multiple carboxylase deficiency 5 rec.
                            |   |__biotinidase deficiency 4 rec.
                            |   |__holocarboxylase synthetase deficiency 1 rec.
                            |__neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities 1 rec.
                            |__neurodevelopmental disorder with spastic paraplegia and microcephaly 1 rec.
                            |__organic acidemia 48 rec.
                            |   |__3-methylglutaconic aciduria(+) 29 rec.
                            |   |__combined malonic and methylmalonic acidemia 1 rec.
                            |   |__glutaric acidemia I 1 rec.
                            |   |__isovaleric acidemia 2 rec.
                            |   |__maple syrup urine disease 9 rec.
                            |   |__methylmalonic acidemia(+) 5 rec.
                            |   |__propionic acidemia 1 rec.
                            |__ornithine translocase deficiency 2 rec.
                            |__oxoglutarate dehydrogenase deficiency 13 rec.
                            |__pentosuria 1 rec.
                            |__phenylketonuria 2 rec.
                            |__prolidase deficiency 1 rec.
                            |__sarcosinemia 1 rec.
                            |__serine deficiency 4 rec.
                            |   |__Neu-Laxova syndrome 1 1 rec.
                            |   |__Neu-Laxova syndrome 2 1 rec.
                            |   |__PHGDH deficiency 2 rec.
                            |   |__PSAT deficiency 1 rec.
                            |   |__PSPH deficiency 1 rec.
                            |__systemic primary carnitine deficiency disease 4 rec.
                            |__tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia 4 rec.
                            |   |__BH4-deficient hyperphenylalaninemia A 1 rec.
                            |   |__BH4-deficient hyperphenylalaninemia B 1 rec.
                            |   |__BH4-deficient hyperphenylalaninemia C 1 rec.
                            |   |__BH4-deficient hyperphenylalaninemia D 1 rec.
                            |__tyrosinemia 4 rec.
                            |   |__tyrosinemia type I 1 rec.
                            |   |__tyrosinemia type II 1 rec.
                            |   |__tyrosinemia type III 2 rec.
                            |__urea cycle disorder 6 rec.
                                |__carbamoyl phosphate synthetase I deficiency disease 1 rec.
                                |__citrullinemia(+) 3 rec.
                                |__hyperargininemia 2 rec.
                                |__N-acetylglutamate synthase deficiency
                                |__ornithine carbamoyltransferase deficiency