{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,1]],"date-time":"2026-02-01T19:36:24Z","timestamp":1769974584916,"version":"3.49.0"},"reference-count":30,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2013,3,12]],"date-time":"2013-03-12T00:00:00Z","timestamp":1363046400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2014,2]]},"abstract":"<jats:p>Solute carrier family 22 member 5 (<jats:italic><jats:styled-content style=\"fixed-case\">SLC22A5<\/jats:styled-content><\/jats:italic>) encodes a sodium\u2010dependent ion transporter responsible for shuffling carnitine across the plasma membrane. This process provides energy for the heart, among other organs allowing beta\u2010oxidation of fatty acids. Mutations in <jats:italic><jats:styled-content style=\"fixed-case\">SLC22A5<\/jats:styled-content><\/jats:italic> result in primary carnitine deficiency (<jats:styled-content style=\"fixed-case\">PCD<\/jats:styled-content>), a disorder that manifests with cardiac, skeletal, or metabolic symptoms. We hereby describe two novel mutations in <jats:italic><jats:styled-content style=\"fixed-case\">SLC22A5<\/jats:styled-content><\/jats:italic> in two Lebanese families associated exclusively with a cardiac phenotype. The frequency of the cardiac, metabolic and skeletal symptoms in <jats:styled-content style=\"fixed-case\">PCD<\/jats:styled-content> patients remains undefined. All the reported eight <jats:styled-content style=\"fixed-case\">PCD<\/jats:styled-content> 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\u2010reported <jats:styled-content style=\"fixed-case\">PCD<\/jats:styled-content> cases revealed an exclusive cardiac manifestation frequency at 62.3% with a very low likelihood of simultaneous occurrence of cardiac and metabolic manifestation.<\/jats:p>","DOI":"10.1111\/cge.12112","type":"journal-article","created":{"date-parts":[[2013,2,4]],"date-time":"2013-02-04T19:22:55Z","timestamp":1360005775000},"page":"127-137","source":"Crossref","is-referenced-by-count":36,"title":["Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype"],"prefix":"10.1111","volume":"85","author":[{"given":"K.","family":"Shibbani","sequence":"first","affiliation":[{"name":"Department of Biochemistry and Molecular Genetics American University of Beirut  Beirut Lebanon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.C.","family":"Fahed","sequence":"additional","affiliation":[{"name":"Department of Genetics Harvard Medical School  Boston MA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Al\u2010Shaar","sequence":"additional","affiliation":[{"name":"Vascular Medicine Program American University of Beirut  Beirut Lebanon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Arabi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine American University of Beirut Medical Center  Beirut Lebanon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Nemer","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Genetics American University of Beirut  Beirut Lebanon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Bitar","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Genetics American University of Beirut  Beirut Lebanon"},{"name":"Department of Pediatrics and Adolescent Medicine American University of Beirut Medical Center  Beirut Lebanon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Majdalani","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine American University of Beirut Medical Center  Beirut 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