Review
doi: 10.1016/j.eplepsyres.2011.02.007.
Epub 2011 Mar 5.
GLUT1 deficiency syndrome in clinical practice
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- PMID: 21382692
- DOI: 10.1016/j.eplepsyres.2011.02.007
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Review
GLUT1 deficiency syndrome in clinical practice
Epilepsy Res.
2012 Jul.
Abstract
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.
Copyright © 2011. Published by Elsevier B.V.
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