3-methylglutaconic aciduria

Mutations in AUH are associated with 3-methylglutaconic aciduria, a rare autosomal recessive disorder. AUH catalyzes the fifth step in the catabolism of leucine, the conversion of 3-methylglutaconyl-CoA to 3-hydroxy-methylglutaryl-CoA. Mutations that affect AUH stability or function result in accumulation of metabolic intermediates such as 3-methylglutaconic acid, 3-methylglutaric acid and 3-hydroxyisovaleric acid that are excreted in urine. The clinical presentation of 3-methylglutaconic aciduria is variable ranging from no-to-mild symptoms to severe encephalopathy, metabolic acidosis and coma.

Summary from Reactome (R-HSA-9914274), read 2026-09-23.