Results of our first study with AP-HP and the ICM on our innovative IVD test METAglut™ published in Annals of Neurology
June 12, 2017
Attending the summit of the Glut1 Deficiency Foundation 2017 to talk about METAglut1™ our innovative IVD blood test
July 13, 2017
July, 2017.
[SCIENTIFIC PUBLICATION] Company ; METAglut1™
SCIENTIFIC PUBLICATION
A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome
Affiliations
1APHP, Robert-Debré University Hospital, Department of Paediatric Neurology and Metabolic Diseases, Paris, France.
2Metafora Biosystems, Evry, France.
3Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Université Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.
4Queen Mary Hospital, Department of Pediatrics and Adolescent Medicine, Hong Kong.
5Inserm U 1141, Université Paris Diderot, Sorbonne Paris Cité, DHU Protect, Paris, France.
6APHP, Raymond-Poincaré Hospital, Department of Neuropediatrics, Paris, France.
7APHP, Robert-Debré University Hospital, Laboratory of Hematology, Paris, France.
8Inserm U 1134; LABEX Gr-Ex; Université Paris Diderot, Paris, France.
9APHP, Pitié-Salpêtrière University Hospital, Department of Neurology, Paris, France.
10AP-HP, Bichat-Claude Bernard Hospital, Biochemistry and Genetic Laboratory, Paris, France.
11APHP, Pitié-Salpêtrière University Hospital, Department of Genetics, Paris, France.
12University Pierre and Marie Curie, Neurometabolic Research Group, Paris, France.
PMID: 28556183
PMCID: PMC5601183
DOI: 10.1002/ana.24970
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.
© 2017 The Authors. Annals of Neurology published by Wiley Periodicals, Inc. on behalf of American Neurological Association.
