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

Yilmaz, Berna; KOR, DENİZ; Mungan, Neslihan; Erdem, Sevcan; CEYLANER, SERDAR

doi:10.1515/jpem-2014-0528

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, cilt.28, sa.9-10, ss.1179-1181, 2015 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 28 Sayı: 9-10
Basım Tarihi: 2015
Doi Numarası: 10.1515/jpem-2014-0528
Dergi Adı: Journal of Pediatric Endocrinology and Metabolism
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.1179-1181
Anahtar Kelimeler: cardiomyopathy, carnitine deficiency, novel mutation, MEMBRANE TRANSPORTER DEFICIENCY, CARDIOMYOPATHY
Lokman Hekim Üniversitesi Adresli: Hayır

Özet

© 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.