Phenotypic Spectrum of Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS)

  • Toni S. Pearson
  • Cigdem Akman
  • Veronica J. Hinton
  • Kristin Engelstad
  • Darryl C. De Vivo
Pediatric Neurology (D Nordli, Section Editor)
Part of the following topical collections:
  1. Topical Collection on Pediatric Neurology

Abstract

Glut1 deficiency syndrome (Glut1 DS) was originally described in 1991 as a developmental encephalopathy characterized by infantile onset refractory epilepsy, cognitive impairment, and mixed motor abnormalities including spasticity, ataxia, and dystonia. The clinical condition is caused by impaired glucose transport across the blood brain barrier. The past 5 years have seen a dramatic expansion in the range of clinical syndromes that are recognized to occur with Glut1 DS. In particular, there has been greater recognition of milder phenotypes. Absence epilepsy and other idiopathic generalized epilepsy syndromes may occur with seizure onset in childhood or adulthood. A number of patients present predominantly with movement disorders, sometimes without any accompanying seizures. In particular, paroxysmal exertional dyskinesia is now a well-documented clinical feature that occurs in individuals with Glut1 DS. A clue to the diagnosis in patients with paroxysmal symptoms may be the triggering of episodes during fasting or exercise. Intellectual impairment may range from severe to very mild. Awareness of the broad range of potential clinical phenotypes associated with Glut1 DS will facilitate earlier diagnosis of this treatable neurologic condition. The ketogenic diet is the mainstay of treatment and nourishes the starving symptomatic brain during development.

Keywords

Seizures Intellectual disability Movement disorders Hypoglycorrhachia SLC2A1 mutations Glucose transporter 

References

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Copyright information

© Springer Science+Business Media New York 2013

Authors and Affiliations

  • Toni S. Pearson
    • 1
  • Cigdem Akman
    • 1
  • Veronica J. Hinton
    • 1
  • Kristin Engelstad
    • 1
  • Darryl C. De Vivo
    • 1
  1. 1.Department of NeurologyColumbia UniversityNew YorkUSA

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