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Malonyl coenzyme A decarboxylase deficiency with a novel mutation

Part of: Metabolic

Published online by Cambridge University Press:  22 March 2021

Cigdem S. Kasapkara Open the ORCID record for Cigdem S. Kasapkara [Opens in a new window] ,
Burcu Civelek Ürey ,
Ahmet C. Ceylan ,
Özlem Ünal Uzun  and
Ibrahim İ. Çetin
Cigdem S. Kasapkara*
Affiliation:
Department of Pediatric Metabolism, Ankara Yildirim Beyazit University, Ankara City Hospital, Ankara, Turkey
Burcu Civelek Ürey
Affiliation:
Department of Pediatric Metabolism, Ankara City Hospital, Ankara, Turkey
Ahmet C. Ceylan
Affiliation:
Department of Genetics, Ankara Yildirim Beyazit University, Ankara City Hospital, Ankara, Turkey
Özlem Ünal Uzun
Affiliation:
Department of Pediatric Metabolism, Ankara City Hospital, Ankara, Turkey
Ibrahim İ. Çetin
Affiliation:
Department of Pediatric Cardiology, Ankara Yildirim Beyazit University, Ankara City Hospital, Ankara, Turkey
*
Author for correspondence: Dr C. S. Kasapkara, Department of Pediatric Metabolism, Ankara Yildirim Beyazit University, Ankara City Hospital, Bilkent Street. Number: 1 Çankaya, Ankara, Turkey. Tel: +903125526000. E-mail: cskasapkara@gmail.com
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Abstract

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.4.1.1.9), 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.

Keywords

Dilated cardiomyopathyfatty acid oxidation defectMalonyl CoA decarboxylase deficiency
Type
Brief Report
Information
Cardiology in the Young , Volume 31 , Issue 9 , September 2021 , pp. 1535 - 1537
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Copyright
© The Author(s), 2021. Published by Cambridge University Press

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