A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome.

Abstract

Glucose transporter type 1 (GLUT1) deficiency syndrome (GLUT1-DS) leads to a wide range of neurological symptoms. Ketogenic diets are very efficient to control epilepsy and movement disorders. We tested a novel simple and rapid blood test in 30 patients with GLUT1-DS with predominant movement disorders, 18 patients with movement disorders attributed to other genetic defects, and 346 healthy controls. We detected significantly reduced GLUT1 expression only on red blood cells from patients with GLUT1-DS (23 patients; 78%), including patients with inconclusive genetic analysis. This test opens perspectives for the screening of GLUT1-DS in children and adults with cognitive impairment, movement disorder, or epilepsy. Ann Neurol 2017;82:133-138.

• Authors: Domitille Gras, Christelle Cousin, Caroline Kappeler, Cheuk-Wing Fung, Stéphane Auvin, Nouha Essid, Brian Hy Chung, Lydie Da Costa, Elodie Hainque, Marie-Pierre Luton, Vincent Petit, Sandrine Vuillaumier-Barrot, Odile Boespflug-Tanguy, Emmanuel Roze, Fanny Mochel
• Journal: Annals of neurology (Ann Neurol) Vol. 82 Issue 1 Pg. 133-138 (Jul 2017) ISSN: 1531-8249 [Electronic] United States
• PMID: 28556183 (Publication Type: Journal Article)
• Copyright: © 2017 The Authors. Annals of Neurology published by Wiley Periodicals, Inc. on behalf of American Neurological Association.

Chemical References

• Glucose Transporter Type 1
• Monosaccharide Transport Proteins
• SLC2A1 protein, human

Topics

• Adolescent
• Adult
• Carbohydrate Metabolism, Inborn Errors (blood, diagnosis)
• Case-Control Studies
• Child
• Child, Preschool
• Female
• Glucose Transporter Type 1 (biosynthesis)
• Hematologic Tests
• Humans
• Male
• Middle Aged
• Monosaccharide Transport Proteins (blood, deficiency)
• Movement Disorders (blood, diagnosis)
• Young Adult