DDC gene Also known as: AADC deficiency; Dopa decarboxylase deficiency; DDC deficiency – OMIM#608643 https://omim.org/entry/608643 1. The Disease: A rare, severe, genetic neurometabolic disorder associated with clinical manifestations related...
Also known as: Charcot-Marie-Tooth disease type 6C; CMT6C; Polyneuropathy responsive to pyridoxal 5’-phosphate – OMIM#618511 https://omim.org/entry/618511 1. The Disease: A rare axonal hereditary motor and sensory neuropathy disease characterized...
GLRA1, GLRB and SLC6A5 genes Also known as: Familial startle disease; Exaggerated startle reaction; Stiff-baby syndrome; Stiff-man syndrome, Congenital stiff-person syndrome; Kok disease – OMIM#149400 https://omim.org/entry/149400 – OMIM#614619 https://omim.org/entry/614619...
Also known as: Parkinsonism-dystonia 2, infantile-onset – OMIM#618049 https://omim.org/entry/618049 1. The disease: A rare infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances....
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...