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Korean J Pediatr. 2012 Feb;55(2):58-62. doi: 10.3345/kjp.2012.55.2.58. Epub 2012 Feb 14.

Transient carnitine transport defect with cholestatic jaundice: report of one case in a premature baby.

Author information

  • 1Department of Pediatrics, Kangwon National University Hospital, Chuncheon, Korea.

Abstract

Carnitine (β-hydroxy-γ-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:

Cholestatic jaundice; Poor weight gain; Prematurity; Transient carnitine transport defect

PMID:
22375151
[PubMed]
PMCID:
PMC3286764
Free PMC Article

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