Glutaric acidemia type 1

Glutaric acidemia type 1 (GA-1) is an inherited disease characterized by episodes of severe brain dysfunction that result in spasticity, low muscle tone, and seizures. It involves defects in the glutaryl-CoA dehydrogenase enzyme, a protein that breaks down the amino acids lysine, hydroxylysine, and tryptophan. The symptoms of GA-1 are due to the build-up of these amino acids and their metabolites in the body, primarily affecting the brain. Glutaric acidemia type 1 is also known as glutaric aciduria type 1.  View testing options