Glutaric aciduria type 1: MR findings in two cases.

Glutaric aciduria type 1 is an autosomal recessive metabolic disorder caused by a deficiency of glutaryi-CoA dehydrogenase. This disorder is characterized by progressive dystonia and dyskinesia. Laboratory evaluation demonstrates excessive levels of glutaric acid urinary excretion as well as absence of demonstrable functional levels of glutaryi-CoA in fibroblast cultures. We present the CT and MR imaging findings of two siblings with biochemically proved glutaric aciduria type 1 .