GLUT1 deficiency disease (G1D)

Evidence-based neurology checklist on glut1 deficiency disease (g1d): Genetics and pathology This is caused by mutations in the SLC2A1 gene More than 60 have been identified The mutation impairs brain glucose transport The transmission is autosomal dominant or recessive Clinical phenotypes…

Genetics and pathology

  • This is caused by mutations in the SLC2A1 gene
  • More than 60 have been identified
  • The mutation impairs brain glucose transport
  • The transmission is autosomal dominant or recessive

Clinical phenotypes

Developmental features

Movement disorders

Other features

Triggers

Cerebrospinal fluid (CSF) analysis: features

Electroencephalogram (EEG)

Other investigations

Treatment

References

  1. Klepper J, Leiendecker B. GLUT1 deficiency syndrome-2007 update. Dev Med Child Neuro 2007; 49:707-716.
  2. Leen WG, Klepper J, Verbeek MM, et al. Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. Brain 2010; 133:655-670.
  3. Graham JM Jr. GLUT1 deficiency syndrome as a cause of encephalopathy that includes cognitive disability, treatment-resistant infantile epilepsy and a complex movement disorder. Eur J Med Genet 2012; 55:332-334.
  4. Verrotti A, D'Egidio C, Agostinelli S, Gobbi G. Glut1 deficiency: when to suspect and how to diagnose? Eur J Paediatr Neurol 2012; 16:3-9. 
  5. Thouin A, Crompton DE. Glut1 deficiency syndrome: absence epilepsy and La Soupe du Jour. Pract Neurol 2016; 16:50-52.
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