Transient carnitine transport defect with cholestatic jaundice: report of one case in a premature baby.
- Author:
Hyun Seok CHO
1
;
Young Kwang CHOO
;
Hong Jin LEE
;
Hyeon Soo LEE
Author Information
- Publication Type:Case Report
- Keywords: Transient carnitine transport defect; Cholestatic jaundice; Poor weight gain; Prematurity
- MeSH: Carnitine; Esters; Fatty Acids; Humans; Infant, Newborn; Jaundice, Obstructive; Live Birth; Weight Gain
- From:Korean Journal of Pediatrics 2012;55(2):58-62
- CountryRepublic of Korea
- Language:English
- 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.