These authors contributed equally to this work.
Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype
Article first published online: 12 MAR 2013
© 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
Volume 85, Issue 2, pages 127–137, February 2014
How to Cite
Shibbani, K., Fahed, A.C., Al-Shaar, L., Arabi, M., Nemer, G., Bitar, F. and Majdalani, M. (2014), Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype. Clinical Genetics, 85: 127–137. doi: 10.1111/cge.12112
No conflict of interest to declare for all participating authors.
- Issue published online: 13 JAN 2014
- Article first published online: 12 MAR 2013
- Accepted manuscript online: 4 FEB 2013 02:06PM EST
- Manuscript Revised: 22 JAN 2013
- Manuscript Received: 20 DEC 2012
- dilated cardiomyopathy;
- primary carnitinte deficiency;
Solute carrier family 22 member 5 (SLC22A5) encodes a sodium-dependent ion transporter responsible for shuffling carnitine across the plasma membrane. This process provides energy for the heart, among other organs allowing beta-oxidation of fatty acids. Mutations in SLC22A5 result in primary carnitine deficiency (PCD), a disorder that manifests with cardiac, skeletal, or metabolic symptoms. We hereby describe two novel mutations in SLC22A5 in two Lebanese families associated exclusively with a cardiac phenotype. The frequency of the cardiac, metabolic and skeletal symptoms in PCD patients remains undefined. All the reported eight PCD patients belonging to five different Lebanese families have an exclusive cardiac phenotype. Carnitine levels appear to be directly linked to the type and position of the mutation and the severity of the phenotypic presentation does not seem to be associated with serum carnitine levels. A comprehensive review of 61 literature-reported PCD cases revealed an exclusive cardiac manifestation frequency at 62.3% with a very low likelihood of simultaneous occurrence of cardiac and metabolic manifestation.