glutaric acidemia I (DOID:0111254)
Alliance: disease page
Synonyms: GA1; glutaric academia type 1; glutaric aciduria 1; glutaric aciduria type I; glutaryl-coA dehydrogenase deficiency; glutaryl-coenzyme A dehydrogenase deficiency
Alt IDs: OMIM:231670, MESH:C536833, ORDO:25
Definition: An organic acidemia characterized by impaired lysine, hydroxylysine, and tryptophan metabolism, increased urinary excretion of glutaric acid, and accumulation of 3-hydroxyglutaric and glutaric acid, resulting in striatal injury and a severe dystonic dyskinetic movement disorder that has_material_basis_in homozygous or compound heterozygous mutation in the GCDH gene on chromosome 19p13.