GCDH : glutaryl-CoA dehydrogenase
Description
The GCDH gene provides instructions for making an enzyme called glutaryl-CoA dehydrogenase. This enzyme plays a crucial role in the breakdown of certain amino acids, particularly lysine and tryptophan, and the production of energy. Located on chromosome 19, the GCDH gene helps convert glutaric acid into glutaconic acid, a crucial step in the metabolic pathway. Mutations in this gene can lead to glutaric aciduria type 1, a rare but serious metabolic disorder.
Associated Diseases
Did you know?
Glutaric aciduria type 1 is often referred to as "glutaric acidemia," emphasizing the buildup of glutaric acid in the body.
