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GLUT1 deficiency

Monday 9 June 2003

Synopsis

- intractable seizures in infancy
- acquired microcephaly
- developmental delay
- low glucose sugar levels in the cerebrospinal fluid, but not in the blood
- dominant transmission¸

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