Journal article
Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype
Clinical genetics, Vol.85(2), pp.127-137
02/01/2014
DOI: 10.1111/cge.12112
PMID: 23379544
Abstract
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.
Details
- Title: Subtitle
- Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype
- Creators
- K. Shibbani - University of Iowa, Stead Family Department of PediatricsA. C. Fahed - Massachusetts General HospitalL. Al-Shaar - Amer Univ Beirut, Vasc Med Program, Beirut, LebanonM. Arabi - American University of BeirutG. Nemer - American University of Beirut Medical CenterF. Bitar - American University of BeirutM. Majdalani - Amer Univ Beirut, Dept Pediat & Adolescent Med, Med Ctr, Beirut, Lebanon
- Resource Type
- Journal article
- Publication Details
- Clinical genetics, Vol.85(2), pp.127-137
- Publisher
- Wiley
- DOI
- 10.1111/cge.12112
- PMID
- 23379544
- ISSN
- 0009-9163
- eISSN
- 1399-0004
- Number of pages
- 11
- Grant note
- Medical Practice Plan at the Faculty of Medicine University Research Board at the AUB
- Language
- English
- Date published
- 02/01/2014
- Academic Unit
- Cardiology; Stead Family Department of Pediatrics
- Record Identifier
- 9984702819802771
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