Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome.

The METAglut1 test is a simple, robust, and non-invasive diagnostic tool for GLUT1 deficiency, enabling broader screening in both pediatric and adult populations, including patients with atypical forms of this treatable disease. This study provides level I evidence that a positive METAglut1 test can reliably distinguish patients suspected of having GLUT1 deficiency from those with other neurological disorders.