IR@PKUHSC  > 北京大学第一临床医学院  > 儿科
学科主题临床医学
Five Chinese patients with 5-oxoprolinuria due to glutathione synthetase and 5-oxoprolinase deficiencies
Li, Xiyuan; Ding, Yuan; Liu, Yupeng; Ma, Yanyan; Song, Jinqing; Wang, Qiao; Yang, Yanling
关键词5-Oxoprolinuria Pyroglutamic aciduria Glutathione synthetase deficiency 5-Oxoprolinase deficiency GSS gene OPLAH gene
刊名BRAIN & DEVELOPMENT
2015-11-01
DOI10.1016/j.braindev.2015.03.005
37期:10页:952-959
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]GAP METABOLIC-ACIDOSIS ; INBORN-ERRORS
英文摘要

Objective: 5-Oxoprolinuria is a rare inherited metabolic disorder caused by a defective gamma-glutamyl cycle resulting from mutations in the genes encoding 5-oxoprolinase (OPLAH) and glutathione synthetase (GSS). No inherited 5-oxoprolinuria case has been reported in mainland China until now. In this study, clinical, biochemical, and genetic aspects of five Chinese 5-oxoprolinuria patients with OPLAH or GSS gene mutations were investigated.

Methods: Three boys and two girls from five unrelated Chinese families with symptomatic 5-oxoprolinuria were identified within the past 3 years in Peking University First Hospital. OPLAH and GSS genes were analyzed.

Results: Patients were hospitalized between the age of 13 days to 1 year and 3 months for hypersomnia, developmental retardation, feeding deficiency, vomiting, icterus and recurrent pneumonia. All patients had significantly elevated urine 5-oxoproline. Three novel mutations (c.1904G>A and c.2813_2815 delGGG in Patient 1, c.2978G>T in Patient 2) on OPLAH, on GSS, one novel mutation (c.1252C>T in Patient 3) and a reported mutation (c.491G>A in Patients 3-5) were detected. Patient 4 has homozygous mutation c.491G>A, the others are heterozygous. After treatment by L-carnitine, vitamin E, B1, B2 and coenzyme Q(10), three patients with GSS deficiency improved, but the two 5-oxoprolinase-deficient patients did not respond to treatment.

Conclusions: 5-Oxoprolinase deficiency and GSS deficiency share some clinical and biochemical features. Genetic analysis is important for the deferential diagnosis. In this study, five Chinese patients had severe central nervous system damage. Antioxidant treatments were proved effective for the three patients with GSS deficiency but not for the two patients with 5-oxoprolinase deficiency. (C) 2015 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

语种英语
WOS记录号WOS:000362387600004
项目编号81471097 ; 2012BAI09B04
资助机构National Nature Science Foundation of China ; 12th Five-year Plan National Key Technology R &amp ; D Program from the Ministry of Science and Technology
引用统计
被引频次:5[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/400002259/65568
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,Liu, Yupeng,et al. Five Chinese patients with 5-oxoprolinuria due to glutathione synthetase and 5-oxoprolinase deficiencies[J]. BRAIN & DEVELOPMENT,2015,37(10):952-959.
APA Li, Xiyuan.,Ding, Yuan.,Liu, Yupeng.,Ma, Yanyan.,Song, Jinqing.,...&Yang, Yanling.(2015).Five Chinese patients with 5-oxoprolinuria due to glutathione synthetase and 5-oxoprolinase deficiencies.BRAIN & DEVELOPMENT,37(10),952-959.
MLA Li, Xiyuan,et al."Five Chinese patients with 5-oxoprolinuria due to glutathione synthetase and 5-oxoprolinase deficiencies".BRAIN & DEVELOPMENT 37.10(2015):952-959.
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
[Liu, Yupeng]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
[Liu, Yupeng]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
[Liu, Yupeng]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。