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学科主题: 临床医学
题名:
Very long-chain acyl-coenzyme A dehydrogenase deficiency in Chinese patients: Eight case reports, including one case of prenatal diagnosis
作者: 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
发表日期: 2015-03-01
DOI: 10.1016/j.ejmg.2015.01.005
卷: 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
所属项目编号: 81471097 ; 2012BAI09B04
项目资助者: National Nature Science Foundation of China ; Ministry of Science and Technology
WOS记录号: WOS:000350228700003
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/61501
Appears in Collections:北京大学第一临床医学院_儿科_期刊论文

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作者单位: Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China

Recommended Citation:
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.
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