葡萄糖转运体1缺陷综合征(glucose transporter type 1 deficiency syndrome,GLUT1-DS)是由于葡萄糖通过血脑屏障障碍致脑内葡萄糖水平低下而导致临床症状,如难治性的癫痫、不自主运动、共济失调、智能障碍等。本文报告1例GLUT1-DS,并复习国内外相关文献,共33例GLUT1-DS,总结该病的临床、实验室检查及预后等特点,以...
葡萄糖转运蛋白1缺陷综合征 葡萄糖转运蛋白 1 缺陷综合征( glucose transporter type 1 deficiency syndrome, GLUT1-DS) 是一种常染色体显性遗传病。于 1991年由De Vivo首先描述 ,其出生发病率估计为 90,000 分之一至 24,300 分之一。葡...
GLUT1缺乏综合症(GTPS)的英文名字是GLUT1 deficiency syndrome(GTPS)。基因解码表明:GLUT1缺乏综合症的其他中文名字包括:葡萄糖转运蛋白1缺乏症、葡萄糖转运蛋白1缺陷症、GLUT1缺陷症等。 GLUT1缺乏综合症的英文名字是:Glucose Transporter Type 1 Deficiency Syndrome(GTPS)。
[2] Seidner G, Alvarez MG, Yeh JI, et al. GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier. Nat Genet 1998;18:188–191. [3] Suls A, Mullen SA, Weber YG, et al. Early-onset absence epilepsy caused by mutations in the glucose transport...
GLUT1缺乏综合症(G1D)的英文名字是GLUT1 deficiency syndrome(G1D)。基因解码表明:GLUT1缺乏综合症(G1D)的其他中文名字包括葡萄糖转运蛋白1缺乏症、葡萄糖转运蛋白1缺陷症等。英文名字为Glucose Transporter Type 1 Deficiency Syndrome。【佳学基因检测】GLUT1缺乏综合症(GLUT1 DS)致病力基因检测?
GLUT1-deficiencysyndrome.BrainDev.31,545552(2009).Pearson,T.S.,Akman,C.,Hinton,V.J.,Engelstad,K.&DeVivo,D.C.Phenotypicspectrumofglucosetransportertype1deficiencysyndrome(Glut1DS).Curr.Neurol.Neurosci.Rep.13,342(2013).Saudubray,J.-M.,vandenBerghe,G.&Walter,J.H.InbornMetabolicDiseases:...
Glucose Transporter Type 1 Deficiency SyndromeEpilepsy, AbsenceEpilepsy, GeneralisedGenetic TestingKetogenic DietFor some time, paediatric neurologists have recognised glucose transporter type 1 (GluT1) deficiency syndrome as a cause of intractable infantile seizures, microcephaly, developmental delay and hypo...
教师指南葡萄糖转运体-1(GLUT-1)缺乏综合征GLUT-1DeficiencySyndrome,GLUT-1DS【课程名称】细胞生物学【章节】质膜——小分子物质的跨膜运输【教学对象】医学院校大学本科二年级上学期学生医学院校七年制二年级下学期学生【病例编写】细胞生物学教研室张惠丹【学习目的】1.掌握简单扩散、易化扩散的基本概念和基本特点。
GLUT1缺陷综合征1型是英文GLUT1 deficiency syndrome 1的中文翻译。这一疾病又叫做Glut1 Deficiency Syndrome 1、Glucose Transport Defect, Blood-Brain Barrier 、Encephalopathy Due to Glut1 Deficiency、Glut1ds1、Glut1 Deficiency Syndrome, Type 1, Infantile Onset, Severe、Classic Glucose Transporter Type 1 ...
Glucose transporter type 1 deficiency syndrome (GLUT1DS) is the result of impaired glucose transport into the brain. The “classic” GLUT1DS patient presents with infantile seizures (resistant to traditional seizure medications), developmental delay, acquired microcephaly, hypotonia, spasticity, and a...