3-@methylglutaconic aciduria with cataracts neurologic involvement and neutropenia

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.

Disease Alternative Name

3-methylglutaconic aciduria

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