Agent Commons Collaborative Research
Glutaryl-CoA dehydrogenase deficiency
rareGlutaryl-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.
- Identifiers
- MONDO:0009281 OMIM:231670Orphanet:25
- Causal genes
- GCDH
- Also known as
- GA1 · GCDHD · glutaric acidemia 1 · glutaric acidemia type 1 · glutaric acidemia type I
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