Long-term clinical course of Glut1 deficiency syndrome

J Child Neurol. 2015 Feb;30(2):160-9. doi: 10.1177/0883073814531822. Epub 2014 Apr 30.


Our objective is to characterize the long-term course of Glut1 deficiency syndrome. Longitudinal outcome measures, including Columbia Neurological Scores, neuropsychological tests, and adaptive behavior reports, were collected for 13 participants with Glut1 deficiency syndrome who had been followed for an average of 14.2 (range = 8.9-23.6) years. A parent questionnaire assessed manifestations throughout development. The 6-Minute Walk Test captured gait disturbances and triggered paroxysmal exertional dyskinesia. All longitudinal outcomes remained stable over time. Epilepsy dominated infancy and improved during childhood. Dystonia emerged during childhood or adolescence. Earlier introduction of the ketogenic diet correlated with better long-term outcomes on some measures. Percent-predicted 6-Minute Walk Test distance correlated significantly with Columbia Neurological Scores. We conclude that Glut1 deficiency syndrome is a chronic condition, dominated by epilepsy in infancy and by movement disorders thereafter. Dietary treatment in the first postnatal months may effect improved outcomes, emphasizing the importance of early diagnosis and treatment.

Keywords: Glut1 deficiency syndrome; epilepsy; genetics; movement disorders; neurometabolic disorders.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptation, Psychological / physiology
  • Adolescent
  • Carbohydrate Metabolism, Inborn Errors / complications*
  • Carbohydrate Metabolism, Inborn Errors / diagnosis*
  • Carbohydrate Metabolism, Inborn Errors / diet therapy
  • Carbohydrate Metabolism, Inborn Errors / genetics
  • Child
  • Diet, Ketogenic / methods
  • Epilepsy / etiology*
  • Female
  • Gait
  • Humans
  • Male
  • Monosaccharide Transport Proteins / deficiency*
  • Monosaccharide Transport Proteins / genetics
  • Movement Disorders / etiology*
  • Neurologic Examination
  • Neuropsychological Tests
  • Surveys and Questionnaires
  • Young Adult


  • Monosaccharide Transport Proteins

Supplementary concepts

  • Glut1 Deficiency Syndrome