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

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.

Citation

Hyun-Seok Cho, Young Kwang Choo, Hong Jin Lee, Hyeon-Soo Lee. Transient carnitine transport defect with cholestatic jaundice: report of one case in a premature baby. Korean journal of pediatrics. 2012 Feb;55(2):58-62

PMID: 22375151

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