Article
Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype.
Clinical genetics - 1 Feb 2014
Shibbani K, Fahed A C, Al-Shaar L, Arabi M, Nemer G, Bitar F, Majdalani M
Abstract excerpt
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...
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