3-methylglutaconic aciduria
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.
MONDO:0019215
classic organic aciduria
is_a
SPAC824.06 SPBC1703.11 SPAC23G3.12c SPBC17A3.01c SPAC977.17 SPBC1685.05