(J. Klepper, Aschaffenburg; updated 01.2007)
Once GLUT1 deficiency syndrome is suspected on the basis of a low CSF/blood glucose ratio, the GLUT1 defect can be confirmed in special laboratory tests. As GLUT1 molecules on the surface of red blood cells reflect GLUT1 in the brain, the number and function of the transporters can be determined in special blood samples by glucose uptake assays.
The gene coding for GLUT1 deficiency syndrome is located on the short arm of chromosome 1 (1p35-31.3). In special laboratories the mutational analysis of the GLUT1 gene is possible. Several heterozygous de novo mutations and families with autosomal-dominant transmission have been detected.