Methylmalonyl Coenzyme A Epimerase (MCEE)

Methylmalonyl CoA Epimerase catalyzes the interconversion of D- and L-methylmalonyl-CoA during the degradation of branched chain amino acids. odd chain-length fatty acids, and other metabolites. Mutations in this gene result in methylmalonyl-CoA epimerase deficiency, which is presented as mild to moderate methylmalonic aciduria.

Bikker et al. (2006) reported a 16-year-old female patient with persistent moderate methylmalonic aciduria. In vitro biochemical findings that comprised a decreased propionate incorporation into macromolecules in cultured fibroblasts and a fully normal activity of methylmalonyl-CoA mutase in the same cells were fully explained by deficiency of methylmalonyl-CoA epimerase.