GLUT1 deficiency syndrome: an update

Rev Neurol (Paris). 2014 Feb;170(2):91-9. doi: 10.1016/j.neurol.2013.09.005. Epub 2013 Nov 20.


Introduction: Glucose transporter type 1 deficiency syndrome is caused by heterozygous, mostly de novo, mutations in the SLC2A1 gene encoding the glucose transporter GLUT1. Mutations in this gene limit brain glucose availability and lead to cerebral energy deficiency.

State of the art: The phenotype is characterized by the variable association of mental retardation, acquired microcephaly, complex motor disorders, and paroxysmal manifestations including seizures and non-epileptic paroxysmal episodes. Clinical severity varies from mild motor dysfunction to severe neurological disability. In patients with mild phenotypes, paroxysmal manifestations may be the sole manifestations of the disease. In particular, the diagnosis should be considered in patients with paroxysmal exercise-induced dyskinesia or with early-onset generalized epilepsy. Low CSF level of glucose, relative to blood level, is the best biochemical clue to the diagnosis although not constantly found. Molecular analysis of the SLC2A1 gene confirms the diagnosis. Ketogenic diet is the cornerstone of the treatment and implicates a close monitoring by a multidisciplinary team including trained dieticians. Non-specific drugs may be used as add-on symptomatic treatments but their effects are often disappointing.

Conclusion: Glucose transporter type 1 deficiency syndrome is likely under diagnosed due to its complex and pleiotropic phenotype. Proper identification of the affected patients is important for clinical practice since the disease is treatable.

Keywords: Epilepsy; Ketogenic diet; Mental retardation; Mouvements anormaux; Movement disorders; Retard mental; Régime cétogène; SLC2A1; Épilepsie.

Publication types

  • Review

MeSH terms

  • Carbohydrate Metabolism, Inborn Errors* / diagnosis
  • Carbohydrate Metabolism, Inborn Errors* / genetics
  • Carbohydrate Metabolism, Inborn Errors* / therapy
  • Diet, Ketogenic / methods
  • Glucose Transporter Type 1 / genetics
  • Humans
  • Monosaccharide Transport Proteins / deficiency*
  • Monosaccharide Transport Proteins / genetics
  • Phenotype
  • Thioctic Acid / therapeutic use
  • Triglycerides / therapeutic use


  • Glucose Transporter Type 1
  • Monosaccharide Transport Proteins
  • SLC2A1 protein, human
  • Triglycerides
  • triheptanoin
  • Thioctic Acid

Supplementary concepts

  • Glut1 Deficiency Syndrome