GLUT1 deficiency syndrome in clinical practice

Epilepsy Res. 2012 Jul;100(3):272-7. doi: 10.1016/j.eplepsyres.2011.02.007. Epub 2011 Mar 5.


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.

Publication types

  • Review

MeSH terms

  • Animals
  • Brain / metabolism*
  • Brain / physiopathology
  • Carbohydrate Metabolism, Inborn Errors / diagnosis
  • Carbohydrate Metabolism, Inborn Errors / diet therapy*
  • Diet, Ketogenic*
  • Epilepsy / diet therapy*
  • Glucose / metabolism
  • Glucose Transporter Type 1 / deficiency
  • Glucose Transporter Type 1 / metabolism*
  • Humans
  • Monosaccharide Transport Proteins / deficiency


  • Glucose Transporter Type 1
  • Monosaccharide Transport Proteins
  • Glucose

Supplementary concepts

  • Glut1 Deficiency Syndrome