Background: Glucose is the main energy source for the brains 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 may differ considerably from one patient to another.
Case presentation: We describe a 17-year-old boy with GLUT1 DS, who was found to have a novel mutation, c.1167C>A (p.Phe389Leu), as the cause of infantile-onset myoclonic seizures. Both serum and cerebrospinal fluid (CSF) glucose concentrations were normal (blood glucose, 93 mg/dl; CSF glucose, 47 mg/dl; and CSF to blood glucose ratio, 0.50).
Conclusion: Our patient helps to clarify the phenotype of GLUT1 deficiency more clearly and reveals a new pathogenic mutation.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology