Blood test can detect GLUT1 deficiency syndrome

Blood test can detect GLUT1 deficiency syndrome
(HealthDay)—A simple and rapid blood test can detect GLUT1 deficiency syndrome (DS), according to a study published online May 26 in the Annals of Neurology.

Domitille Gras, M.D., from Robert-Debré University Hospital in Paris, and colleagues assessed a blood test for GLUT1-DS in a cohort of 30 patients with GLUT1-DS with predominant movement disorders, 18 patients with movement disorder due to other , and 346 healthy controls.

The researchers found that GLUT1 expression was significantly reduced only on of patients with GLUT1-DS (78 percent), including those with inconclusive genetic analysis.

"This test opens perspectives for the screening of GLUT1-DS in children and adults with cognitive impairment, , or epilepsy," the authors write.

One author disclosed being Chief Executive Office of Metafora Biosystems, which developed the test.


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