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Glutaric acidemia type 3

Disease definition

Glutaryl-CoA oxidase deficiency is a peroxisomal disorder leading to glutaric aciduria. The prevalence is unknown. There is no distinctive phenotype associated with this disorder and one of the reported cases was asymptomatic. Transmission appears to be autosomal recessive.

ORPHA:35706

Classification level: Disorder
  • Synonym(s):
    • Glutaric aciduria type 3
    • Glutaryl-CoA oxidase deficiency
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: E72.3
  • OMIM: 231690
  • UMLS: C0342873
  • MeSH: -
  • GARD: 12469
  • MedDRA: -
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