Korean J Pediatr.
2012 Feb;55(2):58-62. 10.3345/kjp.2012.55.2.58.
Transient carnitine transport defect with cholestatic jaundice: report of one case in a premature baby
- Affiliations
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- 1Department of Pediatrics, Kangwon National University Hospital, Chuncheon, Korea. premee@kangwon.ac.kr
- 2Department of Pediatrics, Hallym University College of Medicine, Chuncheon, Korea.
- 3Department of Pediatrics, Kangwon National University School of Medicine, Chuncheon, Korea.
- KMID: 2284323
- DOI: http://doi.org/10.3345/kjp.2012.55.2.58
Abstract
- Carnitine (beta-hydroxy-gamma-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.
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