Long-term clinical course of Glutl deficiency syndrome

Aliza S. Alter, Kristin Engelstad, Veronica J. Hinton, Jacqueline Montes, Toni S. Pearson, Cigdem I. Akman, Darryl C. De Vivo

Research output: Contribution to journalArticlepeer-review

55 Scopus citations


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.

Original languageEnglish
Pages (from-to)160-169
Number of pages10
JournalJournal of Child Neurology
Issue number2
StatePublished - Feb 2015


  • Epilepsy
  • Genetics
  • Glut1 deficiency syndrome
  • Movement disorders
  • Neurometabolic disorders


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