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Methylmalonyl-CoA epimerase deficiency
Review Articles from PubMed
Editorials from PubMed
Research Articles from PubMed
Methylmalonyl-CoA epimerase (MCE) converts d-methylmalonyl-CoA epimer to l-methylmalonyl-CoA epimer in the propionyl-CoA to succinyl-CoA pathway. Only seven cases of MCE deficiency have been described. In two cases, MCE deficiency was combined with sepiapterin reductase deficiency. ...