Facilitated glucose transporter protein type 1 (GLUT1) deficiency syndrome: impaired glucose transport into brain – a review

@article{Klepper2002FacilitatedGT,
  title={Facilitated glucose transporter protein type 1 (GLUT1) deficiency syndrome: impaired glucose transport into brain – a review},
  author={Joerg Klepper and Thomas Voit},
  journal={European Journal of Pediatrics},
  year={2002},
  volume={161},
  pages={295-304}
}
Facilitated glucose transporter protein type 1 (GLUT1) deficiency syndrome (MIM 138140) defines a prototype of a novel group of disorders resulting from impaired glucose transport across blood-tissue barriers. It is caused by a defect in glucose transport into brain, mediated by the facilitative glucose transporter GLUT1. Since 1991, more than 70 patients have been identified. The hallmark of the disease is a low glucose concentration in the CSF (hypoglycorrhachia) in the presence of… CONTINUE READING

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