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KMID : 1130320120550020058
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Korean Journal of Pediatrics
2012 Volume.55 No. 2 p.58 ~ p.62
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Transient carnitine transport defect with cholestatic jaundice: report of one case in a premature baby
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Cho Hyun-Seok
Choo Young-Kwang
Lee Hong-Jin
Lee Hyeon-Soo
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Abstract
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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.
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KEYWORD
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Transient carnitine transport defect, Cholestatic jaundice, Poor weight gain, Prematurity
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