北京大学医学部机构知识库
Advanced  
IR@PKUHSC  > 北京大学第一临床医学院  > 儿科  > 期刊论文
学科主题: 临床医学
题名:
Clinical and mutational spectra of 23 Chinese patients with glutaric aciduria type 1
作者: Wang, Qiao; Li, Xiyuan; Ding, Yuan; Liu, Yupeng; Song, Jinqing; Yang, Yanling
关键词: Glutaric aciduria type 1 (GA1) ; Glutaryl-CoA dehydrogenase (GCDH) ; Dystonia ; Organic aciduria ; Outcome ; Late onset
刊名: BRAIN & DEVELOPMENT
发表日期: 2014-10-01
DOI: 10.1016/j.braindev.2013.11.006
卷: 36, 期:9, 页:813-822
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Clinical Neurology
研究领域[WOS]: Neurosciences & Neurology
关键词[WOS]: COA DEHYDROGENASE-DEFICIENCY ; ACIDEMIA TYPE-I ; TANDEM MASS-SPECTROMETRY ; 3-HYDROXYGLUTARIC ACID ; NATURAL-HISTORY ; DIAGNOSIS ; GENE ; METABOLISM ; MANAGEMENT ; BRAIN
英文摘要:

Objective: Glutaric aciduria type 1 (GA1) is a rare neurometabolic disorder caused by glutaryl-CoA dehydrogenase deficiency due to GCDH gene mutations. In this study, the clinical presentation and molecular aspects of 23 Chinese patients (11 males and 12 females) were investigated. Methods: All patients were diagnosed by elevated urinary glutaric acid and GCDH gene analysis. Protein-restricted diet supplemented with special formula, L-carnitine and GABA analog were initialed after diagnosis. The clinical and biochemical features were analyzed. Mutational analysis of GCDH was conducted. Results: Clinical manifestations of 23 patients varied from asymptomatic to severe encephalopathy, with notable phenotypic differences between siblings with the same mutations. One case was detected by newborn screening, while 22 Cases were diagnosed between the ages of 5 months and 51 years. 29 mutations in GCDH were identified. Among them, 11 were novel, including seven missense mutations (c.406G > T, C.416C > G, c.442G > A, c.640A > G, c.901G > A, c.979G > A, and c.1207C > T), three frameshift mutations (c.873delC, c.1172-1173insT and c.1282-1285ins71) and one nonsense mutation (c.411C > G). In exon 5, c.553G > A and c.148T > C were found in four alleles (8.7%) and three alleles (6.5%) of the patients, respectively. Conclusions: In 23 Chinese patients with GA1, 11 novel GCDH mutations were identified. This may indicate that the genetic profiles of Chinese patients are different from those of other populations. Synopsis: 23 Chinese GA1 patients with varied clinical manifestations have been reported. 11 novel mutations in their GCDH gene were identified, indicating that the genetic profiles of Chinese GA1 patients differ from those of other populations. (C) 2013 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

语种: 英语
所属项目编号: 30872794 ; 2012BAI09B04
项目资助者: National Natural Science Foundation of China ; National Key Technology R &amp ; D Program of China during the Twelfth Five-year Plan Period
WOS记录号: WOS:000349429500011
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/67973
Appears in Collections:北京大学第一临床医学院_儿科_期刊论文

Files in This Item:

There are no files associated with this item.


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

Recommended Citation:
Wang, Qiao,Li, Xiyuan,Ding, Yuan,et al. Clinical and mutational spectra of 23 Chinese patients with glutaric aciduria type 1[J]. BRAIN & DEVELOPMENT,2014,36(9):813-822.
Service
Recommend this item
Sava as my favorate item
Show this item's statistics
Export Endnote File
Google Scholar
Similar articles in Google Scholar
[Wang, Qiao]'s Articles
[Li, Xiyuan]'s Articles
[Ding, Yuan]'s Articles
CSDL cross search
Similar articles in CSDL Cross Search
[Wang, Qiao]‘s Articles
[Li, Xiyuan]‘s Articles
[Ding, Yuan]‘s Articles
Related Copyright Policies
Null
Social Bookmarking
Add to CiteULike Add to Connotea Add to Del.icio.us Add to Digg Add to Reddit

Items in IR are protected by copyright, with all rights reserved, unless otherwise indicated.

 

 

Valid XHTML 1.0!
Copyright © 2007-2017  北京大学医学部 - Feedback
Powered by CSpace