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Clinical and mutational spectra of 23 Chinese patients with glutaric aciduria type 1
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
2014-10-01
DOI10.1016/j.braindev.2013.11.006
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
WOS记录号WOS:000349429500011
引用统计
被引频次:9[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/400002259/67973
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, Dept Pediat, Hosp 1, Beijing 100034, Peoples R China
推荐引用方式
GB/T 7714
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.
APA Wang, Qiao,Li, Xiyuan,Ding, Yuan,Liu, Yupeng,Song, Jinqing,&Yang, Yanling.(2014).Clinical and mutational spectra of 23 Chinese patients with glutaric aciduria type 1.BRAIN & DEVELOPMENT,36(9),813-822.
MLA Wang, Qiao,et al."Clinical and mutational spectra of 23 Chinese patients with glutaric aciduria type 1".BRAIN & DEVELOPMENT 36.9(2014):813-822.
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