(PNPO gene) Also known as: Pyridoxal phosphate-responsive seizures; Seizures, pyridoxine-resistant, PLP-sensitive epileptic encephalopathy, PNPO deficiency; neonatal, PNPO-related OMIM#610090 https://omim.org/entry/610090 1. The disease A very rare neonatal epileptic encephalopathy disorder...
ALDH7A1 gene Also known as: AASADH Deficiency, ALDH7A1 Deficiency, Alpha Aminoadipic Semialdehyde (α-AASA) Dehydrogenase Deficiency, Antiquitin (ATQ) Deficiency, PDE-ALDH7A1 OMIM#266100 https://omim.org/entry/266100 1. The disease Pyridoxine-dependent epilepsy – ALDH7A1 (PDE-ALDH7A1) is a...
PCCA and PCCB genes Also known as: Propionyl-CoA carboxylase deficiency; PCC deficiency; Glycinemia, ketotic; Hyperglycinemia with ketoacidosis and leukopenia; Ketotic hyperglycinemia OMIM#606054 https://omim.org/entry/606054 1. The disease Propionic acidemia (PA)...
GAA gene Also known as: Glycogen Storage Disease II; GSD II; Acid Alpha-Glucosidase Deficiency; GAA Deficiency; Glycogenosis, Generalized, Cardiac Form; Cardiomegalia Glycogenica Diffusa; Acid Maltase Deficiency; AMD; Alpha-1,4-Glucosidase Deficiency...
Genes GCH1, PCBD1, PTS, QDPR, DNAJC12 Includes: – Phenylketonuria – PKU (PAH gene) – Hyperphenylalaninemia, non-PKU mild (HPA) – Phenylketonuria, maternal, included Also known as: Phenylalanine Hydroxylase Deficiency; PAH...
OTC gene Also known as: OTC deficiency; Ornithine Carbamoytransferase Deficiency; Hyperammonemia due to OTC deficiency OMIM#311250 https://omim.org/entry/311250 1. The disease A rare, genetic disorder of urea cycle metabolism and...
NAGS gene Also known as: NAGS deficiency, Hyperammonemia due to N-acetylglutamate synthetase deficiency; N-acetylglutamate synthetase deficiency OMIM#237310 https://omim.org/entry/237310 1. The disease N-acetylglutamate synthase (NAGS) deficiency is a urea cycle...
Disorders of Riboflavin Metabolism is a new form of classifying all the defects that evolves the Riboflavin (vitamin B2), a water-soluble vitamin, is an essential nutrient in higher organisms,...
BCKDHA, BCKDHB and DBT genes Also known as: Brached-Chain ketoaciduria; Branched-Chain alpha-keto acid dehydrogenase deficiency; BCKD deficiency; Keto Acid Decarboxylase Deficiency; MSUD Classical; MSUD Thiamine-responsive; MSUD Intermediate; MSUD Intermittent...
ACADM gene Also known as: ACADM deficiency; MCAD deficiency; MCADH deficiency; Carnitine deficiency secondary to medium-chain acyl-coa dehydrogenase deficiency OMIM#201450 https://omim.org/entry/201450 1. The Disease Medium Chain Acyl-CoA Dehydrogenase Deficiency...