GLUT1 deficiency syndrome in clinical practice

被引：109

作者：

Klepper, Joerg ^{[1
]}

机构：

[1] Childrens Hosp Aschaffenburg, D-63739 Aschaffenburg, Germany

来源：

EPILEPSY RESEARCH | 2012年 / 100卷 / 03期

关键词：

GLUT1; GLUT1 deficiency syndrome; Intractable epilepsy; Ketogenic diet; SLC2A1; CSF glucose; MODIFIED ATKINS DIET; BLOOD-BRAIN-BARRIER; KETOGENIC-DIET; EPILEPSY; MUTATIONS; FEATURES; THERAPY; SLC2A1; GENE;

D O I：

10.1016/j.eplepsyres.2011.02.007

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

100204 [神经病学];

摘要：

GLUT1 deficiency syndrome (GLUT1DS) is caused by impaired glucose transport into brain and is effectively treated by means of a ketogenic diet. In clinical practice the diagnosis of GLUT1DS often is challenging due to the increasing complexity of symptoms, diagnostic cut-offs for hypoglycorrhachia and genetic heterogeneity. In terms of treatment alternative ketogenic diets and their long-term side effects as well as novel compounds such as alpha-lipoic acid and triheptanoin have raised a variety of issues. The current diagnostic and therapeutic approach to GLUT1DS is discussed in this review in view of these recent developments. (C) 2011 Published by Elsevier B.V.

引用

页码：272 / 277

页数：6

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