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analysis of frequency of mutations in the methylmalonyl CoA epimerase gene (MCEE) in atypical methylmalonic aciduria
The product of this gene 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.
, methylmalonyl CoA epimerase
, methylmalonyl-CoA epimerase, mitochondrial
, DL-methylmalonyl-CoA racemase
, glyoxalase domain containing 2