Orphanet: Glutaric acidemia type 3

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Glutaric acidemia type 3

Disease definition

A rare inborn error of metabolism characterized by abnormally high urinary excretion of glutaric acid due to peroxisomal glutaryl-CoA oxidase deficiency. There is no association with a specific clinical phenotype.

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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Glutaric acidemia type 3

ORPHA:35706

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