Malonyl coenzyme A decarboxylase deficiency with a novel mutation

Kasapkara C. S. , Civelek Ürey B., Ceylan A. C. , Ünal Uzun Ö., Çetin İ. İ.

Cardiology in the Young, 2021 (Peer-Reviewed Journal) identifier identifier

  • Publication Type: Article / Article
  • Publication Date: 2021
  • Doi Number: 10.1017/s104795112100113x
  • Journal Name: Cardiology in the Young
  • Journal Indexes: Science Citation Index Expanded, Scopus, Academic Search Premier, CINAHL, EMBASE, MEDLINE
  • Keywords: Dilated cardiomyopathy, fatty acid oxidation defect, Malonyl CoA decarboxylase deficiency


© The Author(s), 2021. Published by Cambridge University Press.Malonyl-CoA, a product of acetyl-CoA carboxylase is a metabolic intermediate in lipogenic tissues that include liver and adipose tissue, where it is involved in the de novo fatty acid synthesis and elongation. Malonyl-CoA decarboxylase (MLYCD, E.C., a 55-kDa enzyme catalyses the conversion of malonyl-CoA to acetyl-CoA and carbon dioxide, thus providing a route for disposal of malonyl-CoA from mitochondria and peroxisomes, whereas in the cytosol, the malonyl-CoA pool is regulated by the balance of MLYCD and acetyl-CoA carboxylase activities. So far, 34 cases with different MLYCD gene defects comprising point mutations, stop codons, and frameshift mutations have been reported in the literature. Here, we describe the follow-up of a patient affected by malonic aciduria upon neonatal onset. Molecular analysis showed novel homozygous mutations in the MLYCD gene. Our findings expand the number of reported cases and add a novel variant to the repertoire of MLYCD mutations.