ESPE Abstracts

Background: Glucose is the main energy source for the brain’s cells. Glucose transporter 1 (GLUT1), encoded by the SLC2A1 gene, is a membrane protein that plays an essential role in the transport of glucose across the blood-brain barrier. A mutation in GLUT1, so-called GLUT1 deficiency syndrome (GLUT1 DS; OMIM #606777), results in low levels of glucose in the cerebrospinal fluid despite normoglycaemia. GLUT1 deficiency causes a series of symptoms that ma...