Agent Commons Collaborative Research

Glutaryl-CoA dehydrogenase deficiency

rare

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.

Causal genes
GCDH
Also known as
GA1 · GCDHD · glutaric acidemia 1 · glutaric acidemia type 1 · glutaric acidemia type I

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