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伴胆汁淤积性黄疸的短暂性肉碱转运缺陷：1例早产儿报告

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

作者信息

Cho Hyun-Seok, Choo Young Kwang, Lee Hong Jin, Lee Hyeon-Soo

机构信息

Department of Pediatrics, Kangwon National University Hospital, Chuncheon, Korea.

出版信息

Korean J Pediatr. 2012 Feb;55(2):58-62. doi: 10.3345/kjp.2012.55.2.58. Epub 2012 Feb 14.

DOI:10.3345/kjp.2012.55.2.58
PMID:22375151
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3286764/
Abstract

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.

摘要

肉碱（β-羟基-γ-三甲基氨基丁酸）参与长链脂肪酸转运至线粒体基质以及清除潜在有毒的酰基肉碱酯。短暂性肉碱转运缺陷是新生儿中一种罕见病症，据报道在每90,000例活产婴儿中出现1例。在本文中，我们描述了1例在一名早产婴儿中发现的短暂性肉碱转运缺陷病例，该婴儿患有长期胆汁淤积性黄疸且体重增加缓慢，口服补充肉碱后反应显著。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/efaf/3286764/0fc50f0d94fc/kjped-55-58-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/efaf/3286764/d4aa96ed11b0/kjped-55-58-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/efaf/3286764/0fa7456857de/kjped-55-58-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/efaf/3286764/cc0e77332b39/kjped-55-58-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/efaf/3286764/0fc50f0d94fc/kjped-55-58-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/efaf/3286764/d4aa96ed11b0/kjped-55-58-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/efaf/3286764/0fa7456857de/kjped-55-58-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/efaf/3286764/cc0e77332b39/kjped-55-58-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/efaf/3286764/0fc50f0d94fc/kjped-55-58-g004.jpg

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Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency.母亲核黄素缺乏导致新生儿女性出现短暂性多种酰基辅酶A脱氢酶缺乏症。
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