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Allelic Variations of Glut-1 Deficiency Syndrome: The Chinese Experience
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
2012-07-01
DOI10.1016/j.pediatrneurol.2012.04.010
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
WOS记录号WOS:000306038300006
项目编号2010-12
资助机构Key Project of Clinical Disciplines from the Chinese Ministry of Public Health
引用统计
被引频次:2[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/400002259/59720
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
北京大学第三临床医学院_儿科
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
推荐引用方式
GB/T 7714
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.
APA Liu, Yanyan.,Bao, Xinhua.,Wang, Dong.,Fu, Na.,Zhang, Xiaoying.,...&Wu, Xiru.(2012).Allelic Variations of Glut-1 Deficiency Syndrome: The Chinese Experience.PEDIATRIC NEUROLOGY,47(1),30-34.
MLA Liu, Yanyan,et al."Allelic Variations of Glut-1 Deficiency Syndrome: The Chinese Experience".PEDIATRIC NEUROLOGY 47.1(2012):30-34.
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