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

• Published in: Clinical and experimental pediatrics Vol. 55; no. 2; pp. 58 - 62
• Main Authors: Cho, Hyun-Seok, Choo, Young Kwang, Lee, Hong Jin, Lee, Hyeon-Soo
• Format: Journal Article
• Language: English
• Published: Korea (South) Clinical and Experimental Pediatics / Korean Pediatric Society 01.02.2012; The Korean Pediatric Society; Korean Pediatric Society; 대한소아청소년과학회
• Subjects: Age; Breastfeeding & lactation; Case Report; Cholestatic jaundice; Enteral nutrition; Fatty acids; Heart; Hemoglobin; Hypoglycemia; Laboratories; Lipids; Medical screening; Musculoskeletal system; Nutrition; Oxidation; Parenteral nutrition; Poor weight gain; Prematurity; Transient carnitine transport defect; Urine; Ventilators; 소아과학; Poor weight gain; Cholestatic jaundice; Prematurity; Transient carnitine transport defect
• ISSN: 1738-1061; 2092-7258; 2713-4148
• DOI: 10.3345/kjp.2012.55.2.58

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.