GLUT1 deficiency
Synopsis
intractable seizures in infancy
acquired microcephaly
developmental delay
low glucose sugar levels in the cerebrospinal fluid, but not in the blood
dominant transmissionž
Etiology
mutation in the GLUT1 gene
Patients with this syndrome can have heterozygous mutations, with one allele being a normal wild type and one being mutant.
An efficient transport of glucose across the blood-brain barrier is essential as it is such an important fuel for the brain, and this is provided by glucose transporter type1 in the endothelial cells of the brain capillaries.
Another minor contribution to the symptomatology of GLUT-1 may be impaired transport of an oxidised form of vitamin C.
References
Gordon N, Newton RW. Glucose transporter type1 (GLUT-1) deficiency. Brain Dev. 2003 Oct;25(7):477-80. PMID: 13129590