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Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS)

Toni S Pearson1, Cigdem Akman, Veronica J Hinton

  • 1Department of Neurology, Columbia University, 710 west 168th Street, New York, NY 10032, USA.

Current Neurology and Neuroscience Reports
|February 28, 2013
PubMed

Insights

Glut1 deficiency syndrome (Glut1 DS) presents with diverse neurological symptoms, including epilepsy and movement disorders, due to impaired brain glucose transport. Early diagnosis and ketogenic diet treatment are crucial for managing this treatable condition.

Area of Science:

  • Neurology
  • Neuroscience
  • Metabolic Disorders

Background:

  • Glut1 deficiency syndrome (Glut1 DS) is a developmental encephalopathy characterized by epilepsy, cognitive impairment, and motor abnormalities.
  • It results from impaired glucose transport across the blood-brain barrier.

Purpose of the Study:

  • To highlight the expanding spectrum of clinical phenotypes associated with Glut1 DS.
  • To emphasize the importance of recognizing milder and atypical presentations for earlier diagnosis.

Main Methods:

  • Review of clinical data and literature on Glut1 DS.
  • Analysis of recognized clinical syndromes and phenotypes.

Main Results:

  • Glut1 DS encompasses a broader range of syndromes than previously recognized, including milder phenotypes.
  • Absence epilepsy, idiopathic generalized epilepsy, and movement disorders like paroxysmal exertional dyskinesia are documented features.
  • Symptoms can be triggered by fasting or exercise, and intellectual impairment varies from severe to mild.

Conclusions:

  • Increased awareness of diverse Glut1 DS phenotypes will improve diagnostic rates.
  • The ketogenic diet is the primary treatment, supporting the brain by providing an alternative energy source.

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