3-methylglutaconic aciduria

rare

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.

Identifiers: MONDO:0017359 Orphanet:289902
Part of: Classic organic aciduria

Subtypes

All diseases Rare only

Disease	ID	Genes
3-methylglutaconic aciduria type 1	MONDO:0009610	AUH
3-methylglutaconic aciduria type 3	MONDO:0009787	OPA3
3-methylglutaconic aciduria type 4	MONDO:0009611
3-methylglutaconic aciduria type 5	MONDO:0012435	DNAJC19
3-methylglutaconic aciduria type 8	MONDO:0044723	HTRA2
3-methylglutaconic aciduria type 9	MONDO:0044724	TIMM50
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	MONDO:0013875
3-methylglutaconic aciduria, type VIIA	MONDO:0859237	CLPB
3-methylglutaconic aciduria, type VIIB	MONDO:0014561	CLPB
Barth syndrome	MONDO:0010543	TAFAZZIN

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