3-methylglutaconic aciduria

MONDO:0017359

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.

5 clinical trials for this condition and its sub-types, 0 tagged with 3-methylglutaconic aciduria itself.

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↑ Classic organic aciduria (20)

Sub-types of 3-methylglutaconic aciduria

Barth syndrome 5 trials
3-methylglutaconic aciduria type 1 0 trials
3-methylglutaconic aciduria type 3 0 trials
3-methylglutaconic aciduria type 4 0 trials
3-methylglutaconic aciduria type 5 0 trials
3-methylglutaconic aciduria type 8 0 trials
3-methylglutaconic aciduria type 9 0 trials
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 0 trials
3-methylglutaconic aciduria, type VIIA 0 trials
3-methylglutaconic aciduria, type VIIB 0 trials

Including sub-types (5) Tagged with 3-methylglutaconic aciduria (0)

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