Primary systemic carnitine deficiency: A Turkish case with a novel homozygous SLC22A5 mutation and 14 years follow-up

Yilmaz B. S., KOR D., Mungan N. O., Erdem S., CEYLANER S.

Journal of Pediatric Endocrinology and Metabolism, vol.28, no.9-10, pp.1179-1181, 2015 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 28 Issue: 9-10
  • Publication Date: 2015
  • Doi Number: 10.1515/jpem-2014-0528
  • Journal Name: Journal of Pediatric Endocrinology and Metabolism
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.1179-1181
  • Keywords: cardiomyopathy, carnitine deficiency, novel mutation, MEMBRANE TRANSPORTER DEFICIENCY, CARDIOMYOPATHY
  • Lokman Hekim University Affiliated: No


© 2015 by De Gruyter.Systemic primary carnitine deficiency is an autosomal recessive disorder caused by the deficiency of carnitine transporter. Main features are cardiomyopathy, myopathy and hypoglycemic encephalopathy. We report a Turkish case with a novel SLC22A5 gene mutation presented with a pure cardiac phenotype. During the 14-year follow-up study, cardiac functions were remained within a normal range with oral L-carnitine supplementation.