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学科主题: 临床医学
题名:
Allelic Variations of Glut-1 Deficiency Syndrome: The Chinese Experience
作者: Liu, Yanyan1,2; Bao, Xinhua1; Wang, Dong3; Fu, Na1; Zhang, Xiaoying1; Cao, Guangna1; Song, Fuying2; Wang, Shuang1; Zhang, Yuehua1; Qin, Jiong1; Yang, Hong3; Engelstad, Kristin3; De Vivo, Darryl C.3; Wu, Xiru1
刊名: PEDIATRIC NEUROLOGY
发表日期: 2012-07-01
DOI: 10.1016/j.pediatrneurol.2012.04.010
卷: 47, 期:1, 页:30-34
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Clinical Neurology ; Pediatrics
研究领域[WOS]: Neurosciences & Neurology ; Pediatrics
关键词[WOS]: TRANSPORTER TYPE-1 DEFICIENCY ; MOVEMENT-DISORDERS ; MUTATIONS ; SPECTRUM ; SLC2A1
英文摘要:

Glucose transporter type 1 deficiency syndrome is characterized by infantile onset seizures, development delay, movement disorders, and acquired microcephaly. The phenotype includes allelic variants such as intermittent ataxia, choreoathetosis, dystonia, and alternating hemiplegia of childhood with or without epilepsy. Dystonias involve allelic variants of glucose transporter type 1 deficiency syndrome. Three Chinese patients presented with paroxysmal behavioral disturbance, weakness, ataxia (especially after fasting), and exercise intolerance. Electroencephalogram findings did not correlate with clinical manifestations. Cranial magnetic resonance imaging produced normal results or mild hypomyelination. Hypoglycorrhachia was evident in all cases. Cerebrospinal fluid glucose ranged from 1.63-2.45 mmol/L. Erythrocyte 3-O-methyl-D-glucose uptake was decreased to 58% in patient 1. Three SLC2A1 disease-causing mutations (761delA, P383H, and R400C) were observed. No patient tolerated ketogenic diets. Two patients responded to frequent meals with snacks. Cerebrospinal fluid evaluation constitutes the diagnostic testing permitting early treatment of glucose transporter type 1 deficiency syndrome. Early diagnosis and treatment improve prognoses. (c) 2012 Elsevier Inc. All rights reserved.

语种: 英语
所属项目编号: 2010-12
项目资助者: Key Project of Clinical Disciplines from the Chinese Ministry of Public Health
WOS记录号: WOS:000306038300006
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/59720
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: 1.Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China
2.Childrens Hosp, Capital Res Inst Pediat, Dept Internal Med, Beijing, Peoples R China
3.Columbia Univ, Dept Neurol, Colleen Giblin Labs Pediat Neurol Res, New York, NY USA

Recommended Citation:
Liu, Yanyan,Bao, Xinhua,Wang, Dong,et al. Allelic Variations of Glut-1 Deficiency Syndrome: The Chinese Experience[J]. PEDIATRIC NEUROLOGY,2012,47(1):30-34.
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