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Korean J Pediatr 2012 February;55(2) :58-62.
doi:https://doi.org/10.3345/kjp.2012.55.2.58
Transient carnitine transport defect with cholestatic jaundice: report of one case in a premature baby
Hyun-Seok Cho (Cho HS)1, Young Kwang Choo (Choo YK)1, Hong Jin Lee (Lee HJ)2, hyeon-Soo Lee (Lee hS)
Department of Pediatrics, Kangwon National University School of Medicine, Chuncheon, Korea
1Department of Pediatrics, Kangwon National University Hospital, Chuncheon, Korea
2Department of Pediatrics, Hallym University College of Medicine, Chuncheon, Korea
Corresponding Author: hyeon-Soo Lee ,Tel: +82-033-258-2318, Fax: +82-33-258-2418, Email: premee@kangwon.ac.kr
Copyright © 2012 by The Korean Pediatric Society
ABSTRACT
Carnitine (-hydroxy--trimethylaminobutyric acid) is involved in the transport of long-chain fatty acids into the mitochondrial matrix and the removal of potentially toxic acylcarnitine esters. Transient carnitine transport defect is a rare condition in newborns reported in 1/90,000 live births. In this paper, we describe a case of transient carnitine transport defect found in a premature baby who had prolonged cholestatic jaundice and poor weight gain, and who responded dramatically to oral carnitine supplementation.
Keywords: Transient carnitine transport defect | Cholestatic jaundice | Poor weight gain | Prematurity
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