Mutations in the AUH gene cause 3-methyl
β
T.B. Nga Ly; Verena Peters; K. Michael Gibson; Michael Liesert; Wolfgang Buckel;
π
Article
π
2003
π
John Wiley and Sons
π
English
β 166 KB
The conversion of 3-methylglutaconyl-CoA to 3-hydroxy-3-methylglutaryl-CoA is the only step in leucine catametabolism yet to be characterized at enzyme and DNA levels. The deficiency of the putative mitochondrial enzyme 3-methylglutaconyl-CoA hydratase associates with the rare organic aciduria 3-met