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Ann Neurol. 2017 Jul;82(1):133-138. doi: 10.1002/ana.24970.

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

Author information

1
APHP, Robert-Debré University Hospital, Department of Paediatric Neurology and Metabolic Diseases, Paris, France.
2
Metafora Biosystems, Evry, France.
3
Inserm 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.
4
Queen Mary Hospital, Department of Pediatrics and Adolescent Medicine, Hong Kong.
5
Inserm U 1141, Université Paris Diderot, Sorbonne Paris Cité, DHU Protect, Paris, France.
6
APHP, Raymond-Poincaré Hospital, Department of Neuropediatrics, Paris, France.
7
APHP, Robert-Debré University Hospital, Laboratory of Hematology, Paris, France.
8
Inserm U 1134; LABEX Gr-Ex; Université Paris Diderot, Paris, France.
9
APHP, Pitié-Salpêtrière University Hospital, Department of Neurology, Paris, France.
10
AP-HP, Bichat-Claude Bernard Hospital, Biochemistry and Genetic Laboratory, Paris, France.
11
APHP, Pitié-Salpêtrière University Hospital, Department of Genetics, Paris, France.
12
University Pierre and Marie Curie, Neurometabolic Research Group, Paris, France.

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.

PMID:
28556183
PMCID:
PMC5601183
DOI:
10.1002/ana.24970
[Indexed for MEDLINE]
Free PMC Article

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