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Five Chinese patients with 5-oxoprolinuria due to glutathione synthetase and 5-oxoprolinase deficiencies
作者: 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
发表日期: 2015-11-01
DOI: 10.1016/j.braindev.2015.03.005
卷: 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
所属项目编号: 81471097 ; 2012BAI09B04
项目资助者: National Nature Science Foundation of China ; 12th Five-year Plan National Key Technology R &amp ; D Program from the Ministry of Science and Technology
WOS记录号: WOS:000362387600004
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内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/65568
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,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.
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