IR@PKUHSC  > 北京大学第一临床医学院  > 儿科
学科主题临床医学
Very long-chain acyl-coenzyme A dehydrogenase deficiency in Chinese patients: Eight case reports, including one case of prenatal diagnosis
Li, Xiyuan; Ding, Yuan; Ma, Yanyan; Liu, Yupeng; Wang, Qiao; Song, Jinqing; Yang, Yanling
关键词ACADVL gene Mitochondrial fatty acid beta-oxidation Very long-chain acyl-coenzyme A dehydrogenase deficiency Very long-chain fatty acid
刊名EUROPEAN JOURNAL OF MEDICAL GENETICS
2015-03-01
DOI10.1016/j.ejmg.2015.01.005
58期:3页:134-139
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Genetics & Heredity
研究领域[WOS]Genetics & Heredity
关键词[WOS]TANDEM MASS-SPECTROMETRY ; ACID OXIDATION DISORDERS ; COA DEHYDROGENASE ; MISSENSE MUTATIONS ; BETA-OXIDATION ; NEWBORN ; DISEASE ; MANAGEMENT
英文摘要

Objective: Very long-chain acyl-coenzyme A dehydrogenase deficiency (VLCADD) is a rare mitochondrial fatty acid beta-oxidation disorder. We aimed to explore the clinical, biochemical, and genetic findings, treatments and outcomes in eight Chinese VLCADD patients.

Methods: Eight patients from six unrelated Chinese families with symptomatic VLCADD were diagnosed in the past 4 years. The clinical features and ACADVL gene mutations were analyzed.

Results: One patient underwent newborn screening and has been treated timely, she hardly had any symptoms. The remaining seven patients were found because of edema, diarrhea, coma, liver damage and psychomotor retardation. Seven patients had fatty liver. Five had myopathy. All patients had elevated blood tetradecanoylcarnitine. Nine heterozygous mutations of the ACADVL gene were found. Three (c.1102C > T, c.1795G > A and IVS10, +6T > A) were novel. Seven patients completely recovered after treatment. One patient died before diagnosis due to cardiomyopathy. His mother underwent amniocentesis for prenatal diagnosis. The fetus had the same gene mutation of the proband and markedly elevated tetradecanoylcarnitine in amniotic fluid. The boy has been treated after birth and he is healthy now.

Conclusions: Dietary treatment usually leads to good outcomes to VLCADD patients. Amniocytes ACADVL mutations and amniotic fluid tetradecanoylcarnitine analysis are useful for the prenatal diagnosis. (C) 2015 Elsevier Masson SAS. All rights reserved.

语种英语
WOS记录号WOS:000350228700003
引用统计
被引频次:2[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/61501
专题北京大学第一临床医学院_儿科
北京大学第二临床医学院_儿科
北京大学口腔医学院_义齿加工中心
作者单位Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China
推荐引用方式
GB/T 7714
Li, Xiyuan,Ding, Yuan,Ma, Yanyan,et al. Very long-chain acyl-coenzyme A dehydrogenase deficiency in Chinese patients: Eight case reports, including one case of prenatal diagnosis[J]. EUROPEAN JOURNAL OF MEDICAL GENETICS,2015,58(3):134-139.
APA Li, Xiyuan.,Ding, Yuan.,Ma, Yanyan.,Liu, Yupeng.,Wang, Qiao.,...&Yang, Yanling.(2015).Very long-chain acyl-coenzyme A dehydrogenase deficiency in Chinese patients: Eight case reports, including one case of prenatal diagnosis.EUROPEAN JOURNAL OF MEDICAL GENETICS,58(3),134-139.
MLA Li, Xiyuan,et al."Very long-chain acyl-coenzyme A dehydrogenase deficiency in Chinese patients: Eight case reports, including one case of prenatal diagnosis".EUROPEAN JOURNAL OF MEDICAL GENETICS 58.3(2015):134-139.
条目包含的文件
条目无相关文件。
个性服务
推荐该条目
保存到收藏夹
查看访问统计
导出为Endnote文件
谷歌学术
谷歌学术中相似的文章
[Li, Xiyuan]的文章
[Ding, Yuan]的文章
[Ma, Yanyan]的文章
百度学术
百度学术中相似的文章
[Li, Xiyuan]的文章
[Ding, Yuan]的文章
[Ma, Yanyan]的文章
必应学术
必应学术中相似的文章
[Li, Xiyuan]的文章
[Ding, Yuan]的文章
[Ma, Yanyan]的文章
相关权益政策
暂无数据
收藏/分享
所有评论 (0)
暂无评论
 

除非特别说明,本系统中所有内容都受版权保护,并保留所有权利。