3-methylglutaconic aciduria
MONDO:0017359A 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.
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Barth syndrome
(5)
3-methylglutaconic aciduria type 1
(0)
3-methylglutaconic aciduria type 3
(0)
3-methylglutaconic aciduria type 4
(0)
3-methylglutaconic aciduria type 5
(0)
3-methylglutaconic aciduria type 8
(0)
3-methylglutaconic aciduria type 9
(0)
3-methylglutaconic aciduria, type VIIA
(0)
3-methylglutaconic aciduria, type VIIB
(0)
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
(0)