A defect in this enzyme is associated with neurological condition glutaric acidemia type 1, which is often fatal. It has been found that mutations in this gene cause a progressive form of early-onset generalized dystonia.
^The Effect of a Glu370Asp Mutation in Glutaryl-CoA Dehydrogenase on Proton Transfer to the Dienolate Intermediate
^Marti-Masso, JF; Ruiz-Martínez, J, Makarov, V, de Munain, AL, Gorostidi, A, Bergareche, A, Yoon, S, Buxbaum, JD, Paisán-Ruiz, C (Sep 13, 2011). "Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia.". Human Genetics131 (3): 435–42. doi:10.1007/s00439-011-1086-6. PMID21912879.Cite uses deprecated parameters (help)