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  • 标题:Transient carnitine transport defect with cholestatic jaundice: report of one case in a premature baby
  • 本地全文:下载
  • 作者:Cho, Hyun-Seok ; Choo, Young Kwang ; Lee, Hong Jin
  • 期刊名称:Korean Journal of Pediatrics
  • 印刷版ISSN:1738-1061
  • 出版年度:2012
  • 卷号:55
  • 期号:2
  • 页码:58-62
  • DOI:10.3345/kjp.2012.55.2.58
  • 语种:English
  • 出版社:The Korean Pediatric Society
  • 摘要:

    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.

  • 关键词:Transient carnitine transport defect; Cholestatic jaundice; Poor weight gain; Prematurity
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