3-methylglutaconic aciduria
MONDO:0017359Mondo
Findings
No curated finding names 3-methylglutaconic aciduria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A group of five inherited disorders caused by mutations in the AUH, DNAJC19, OPA3, and TAZ genes. The disorders are characterized by impairment in the function of mitochondria, resulting in the accumulation and excretion of 3-methylglutaconic acid, and the presence of 3-methylglutaric acid in the urine.
Definition from the Mondo Disease Ontology (MONDO:0017359), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of
- Narrower terms (10)
- 3-methylglutaconic aciduria type 1
- 3-methylglutaconic aciduria type 3
- 3-methylglutaconic aciduria type 4
- 3-methylglutaconic aciduria type 5
- 3-methylglutaconic aciduria type 8
- 3-methylglutaconic aciduria type 9
- 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
- 3-methylglutaconic aciduria, type VIIA
- 3-methylglutaconic aciduria, type VIIB
- Barth syndrome