Glutaryl-CoA dehydrogenase
Encyclopedia
Glutaryl-CoA dehydrogenase is an enzyme acting upon glutaryl-coenzyme A, creating crotonyl-coenzyme A.
It plays a role in the metabolism of lysine
, hydroxylysine
and tryptophan
.
, which is often fatal. It has been found that mutations in this gene cause a progressive form of early-onset generalized dystonia
.
It plays a role in the metabolism of lysine
Lysine
Lysine is an α-amino acid with the chemical formula HO2CCH4NH2. It is an essential amino acid, which means that the human body cannot synthesize it. Its codons are AAA and AAG....
, hydroxylysine
Hydroxylysine
5-Hydroxylysine is an amino acid with the molecular formula C6H14N2O3. It was first discovered in 1921 by Donald Van Slyke. It is a hydroxy derivative of lysine. It is most widely known as a component of collagen....
and tryptophan
Tryptophan
Tryptophan is one of the 20 standard amino acids, as well as an essential amino acid in the human diet. It is encoded in the standard genetic code as the codon UGG...
.
Pathology
A defect in this enzyme is associated with neurological condition glutaric acidemia type 1Glutaric acidemia type 1
Glutaric acidemia type 1 is an inherited disorder in which the body is unable to break down completely the amino acids lysine, hydroxylysine and tryptophan...
, which is often fatal. It has been found that mutations in this gene cause a progressive form of early-onset generalized dystonia
Dystonia
Dystonia is a neurological movement disorder, in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures. The disorder may be hereditary or caused by other factors such as birth-related or other physical trauma, infection, poisoning or reaction to...
.