Ethylmalonyl-CoA Decarboxylase, a New Enzyme Involved in Metabolite Proofreading

Background: Acetyl-CoA and propionyl-CoA carboxylases slowly form ethylmalonyl-CoA as a side activity. Results: Anew enzyme, ethylmalonyl-CoA decarboxylase, was identified in mammalian tissues and shown to be encoded by the ECHDC1 gene. Knocking down this gene increased the formation of ethylmalonate from butyrate in cultured cells. Conclusion: Ethylmalonyl-CoA decarboxylase may be a new metabolite proofreading enzyme. Significance: Its deficiency may cause ethylmalonic aciduria.