Clinical and Experimental Pediatrics

대한소아청소년과학회 (The Korean Pediatric Society)
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Transient carnitine transport defect with cholestatic jaundice: report of one case in a premature baby

  • Cho, Hyun-Seok (Department of Pediatrics, Kangwon National University Hospital) ;
  • Choo, Young-Kwang (Department of Pediatrics, Kangwon National University Hospital) ;
  • Lee, Hong-Jin (Department of Pediatrics, Hallym University College of Medicine) ;
  • Lee, Hyeon-Soo (Department of Pediatrics, Kangwon National University Hospital)
  • 투고 : 2011.06.28
  • 심사 : 2011.09.28
  • 발행 : 2012.02.15
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초록

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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참고문헌

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피인용 문헌

  1. Impact of Parenteral Lipid Emulsion Components on Cholestatic Liver Disease in Neonates vol.13, pp.2, 2012, https://doi.org/10.3390/nu13020508