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Glutaryl-CoA dehydrogenase deficiency

Disease 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.

ORPHA:25

  • Synonym(s):
    • GA1
    • GCDHD
    • Glutaric acidemia type 1
    • Glutaric aciduria type 1
    • Glutaryl-coenzyme A dehydrogenase deficiency
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E72.3
  • OMIM: 231670
  • UMLS: C0268595
  • MeSH: C536833
  • GARD: 6522
  • MedDRA: -
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