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glutaric acidemia type 3

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description 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.
Uniprot Description A metabolic disorder due to peroxisomal glutaryl-CoA oxidase deficiency and characterized by the excretion of abnormal quantities of glutaric acid but low 3-hydroxyglutaric acid.
Mondo Term and Equivalent IDs
MONDO:0009283:  glutaric acidemia type 3
GARD:0012469: 
MESH:C562818: 
Orphanet:35706: 
SCTID:238070003: 
UMLS:C0342873: