PURPOSE: Glut-1 deficiency syndrome (Glut-1 DS) is caused by the deficiency of the major glucose transporter in cerebral microvessels. METHODS: We performed pre- and postprandial EEG recordings in two unrelated children with Glut-1 DS with developmental delay and seizures predominantly in the morning before breakfast. RESULTS: Extensive epileptiform discharges observed in the fasting state were improved markedly by food intake, as documented in EEG recordings 1 and 2 h after a meal. The ratio of cerebrospinal fluid glucose to blood glucose was decreased in both children. Glut-1 deficiency was confirmed by biochemical and molecular genetic investigations. CONCLUSIONS: Pre- and postprandial EEG recordings offer a simple screening test for Glut-1 DS.
PURPOSE:Glut-1 deficiency syndrome (Glut-1 DS) is caused by the deficiency of the major glucose transporter in cerebral microvessels. METHODS: We performed pre- and postprandial EEG recordings in two unrelated children with Glut-1 DS with developmental delay and seizures predominantly in the morning before breakfast. RESULTS: Extensive epileptiform discharges observed in the fasting state were improved markedly by food intake, as documented in EEG recordings 1 and 2 h after a meal. The ratio of cerebrospinal fluid glucose to blood glucose was decreased in both children. Glut-1 deficiency was confirmed by biochemical and molecular genetic investigations. CONCLUSIONS: Pre- and postprandial EEG recordings offer a simple screening test for Glut-1 DS.
Authors: Toni S Pearson; Cigdem Akman; Veronica J Hinton; Kristin Engelstad; Darryl C De Vivo Journal: Curr Neurol Neurosci Rep Date: 2013-04 Impact factor: 5.081
Authors: W C G Overweg-Plandsoen; J E M Groener; D Wang; W Onkenhout; O F Brouwer; H D Bakker; D C De Vivo Journal: J Inherit Metab Dis Date: 2003 Impact factor: 4.982