Glutaryl-CoA dehydrogenase deficiency
Glutaryl-CoA dehydrogenase deficiency
Definition
Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder.
Also known as GA1, GCDHD, glutaric acidemia type 1, glutaric aciduria type 1, glutaric aciduria, type 1, glutaricaciduria, type I, glutaryl-CoA dehydrogenase deficiency, glutaryl-coenzyme A dehydrogenase deficiency — per MONDO