GLUT1 deficiency disease (G1D)

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

GLUT1 deficiency disease (G1D). This is caused by mutations in the SLC2A1 gene. More than 60 have been identified. Fully referenced neurology checklist.

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

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Developmental features

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Movement disorders

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Other features

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Triggers

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Cerebrospinal fluid (CSF) analysis: features

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Electroencephalogram (EEG)

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Other investigations

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Treatment

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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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