Glutaric aciduria type 1

Glutaric aciduria type 1, also called glutaric acidemia type 1 and abbreviated GA1, is an inherited metabolic disorder in which the body cannot completely break down the amino acids lysine, hydroxylysine and tryptophan. Intermediate products of that breakdown, including glutaric acid, glutaryl-CoA, 3-hydroxyglutaric acid and glutaconic acid, accumulate and can damage the brain, particularly the basal ganglia, the regions that help regulate movement, and other organs as well. Because glutaric acid is detoxified by carnitine, the condition also causes a secondary carnitine deficiency, and intellectual disability may occur. GA1 is inherited in an autosomal recessive pattern and is caused by a deficiency of the enzyme glutaryl-CoA dehydrogenase, which is encoded by the GCDH gene.