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...
MLYCD gene Also known as: Malonyl-CoA decarboxylase deficiency (MLYCD) OMIM#248360 https://omim.org/entry/248360 1. The disease Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MLYCD). This disease...
HADHA gene Also known as: LCHAD deficiency; HELLP syndrome, maternal, of pregnancy; fatty liver, acute, of pregnancy #609016 https://omim.org/entry/609016 Includes: – Mitochondrial Trifunctional Protein Deficiency (MTP) – (HADHB gene)...
IVD gene Also known as: Isovaleric Acid-Coa-Dehydrogenase deficiency; IVD deficiency; IVA OMIM#243500 https://omim.org/entry/243500 1. The disease: IVA is a rare, autosomal recessive, organic aciduria that is characterized by variable...
SLC25A15 gene Also known: Ornitine Translocase Deficiency; HHH syndrome; 3H syndrome OMIM#238970 https://omim.org/entry/238970 1. The Disease A rare, genetic disorder of urea cycle metabolism characterized by either a neonatal-onset...