/glutaryl-CoA dehydrogenase deficiency

glutaryl-CoA dehydrogenase deficiency

Rare Disease

MONDO:0009281

Also Known As

GA1GCDHDglutaric acidemia type 1glutaric aciduria type 1glutaric aciduria, type 1glutaricaciduria, type Iglutaryl-CoA dehydrogenase deficiencyglutaryl-coenzyme A dehydrogenase deficiencyGa 1glutaric acidemia 1glutaric acidemia Iglutaric acidemia type Iglutaric acidemia, type 1glutaric aciduria 1glutaric aciduria type I

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.