ACADVL gene Also known as: VLCAD deficiency OMIM#201475 https://omim.org/entry/201475 1. The Disease Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-1. chain fatty acid...
Also known as: Genetic tyrosinemias Includes: – Tyrosinemia type 1 – gene FAH Also known as: Hepatorenal Tyrosinemia I; Hereditary Tyrosinemia type 1; Fumarylacetoacetase Deficiency; FAH Deficiency OMIM#276700 https://omim.org/entry/276700 – Tyrosinemia...
SI gene (OMIM* 609845) Also known as: Disaccharide Intolerance I; Sucrose-Isomaltose Malabsorption, Congenital Sucrose Intolerance, Congenital Si Deficiency OMIM # 222900 https://omim.org/entry/222900 1. The Disease Congenital sucrase-isomaltase (CSID) deficiency...
ACAT1 gene Also known as: T2 deficiency; 2-methyl-3-hydroxybutyric acidemia; mitochondrial acetoacetyl-coa thiolase deficiency – MAT deficiency; 3-oxothiolase deficiency OMIM#203750 https://omim.org/entry/203750 1. The disease Beta-ketothiolase deficiency is a rare, genetic...
PHGDH, PSAT1, PSPH, SLC1A4 genes Also known as: Serine deficiency; Neurometabolic disorder due to serine deficiency; Neulaxova spectrum; Neulaxova syndrome. Include: Phosphoglycerate Dehydrogenase Deficiency (PHGDHD) – gene PHGDH Also...
OXCT1 gene Also known as: SCOT deficiency; Succinyl-CoA:3-ketoacid CoA-transferase deficiency; Succinyl-CoA:acetoacetate transferase deficiency; ketoacidosis due to SCOT deficiency OMIM#245050 https://omim.org/entry/245050 1. The disease Neonatal onset occurs in half of patients, presenting...
(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...