Details of Disease | DrugMAP

General Information of Disease (ID: DIS86G88)

Disease Name	Glutaric acidemia type 3
Synonyms	Ga 3; glutaric aciduria 3; glutaric aciduria type III; glutaric aciduria III; GA3; glutaryl-Coa oxidase deficiency; glutaric acidemia type III; GA III; glutaric aciduria (disease) caused by mutation in SUGCT; SUGCT glutaric aciduria (disease); glutaric acidemia type 3; glutaryl-CoA oxidase deficiency; glutaric aciduria type 3
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.
Disease Hierarchy	DISB7ID3: Inborn organic aciduria DISGE8NR: Glutaric aciduria DIS86G88: Glutaric acidemia type 3
Disease Identifiers	MONDO ID MONDO_0009283 MESH ID C562818 UMLS CUI C0342873 OMIM ID 231690 MedGen ID 87464 Orphanet ID 35706 SNOMED CT ID 238070003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SUGCT	OTA8L0TN	Strong	Autosomal recessive	[1]
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References

1	Genetic mapping of glutaric aciduria, type 3, to chromosome 7 and identification of mutations in c7orf10. Am J Hum Genet. 2008 Nov;83(5):604-9. doi: 10.1016/j.ajhg.2008.09.018.