MitoSciences: Glutaryl-CoA dehydrogenase, mitochondrial (GCDH)

UniProt Number:	Q92947
Alternate Names:	GCD
Structure and Function:	Glutaryl-CoA dehydrogenase is an acyl dehydrogenase involved in the metabolism of lysine, hydroxylysine, and tryptophan. Specifically, it catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO₂ in the degradative pathway of L-lysine, L-hydroxylysine, and L-tryptophan metabolism. It uses electron transfer flavoprotein as its electron acceptor.
Disease Associations:	More than 150 mutations in GCDH are known. Defects in GCDH are the cause of glutaric aciduria type 1 (GA1) [MIM:231670]. GA1 is an autosomal recessive metabolic disorder characterized by progressive dystonia and athetosis due to gliosis and neuronal loss in the basal ganglia.