Glucose Transporter Type1 Deficiency Syndrome (Glut1DS) a rare genetic condition that impairs brain metabolism. It is caused by a mutation in the SLC2A1 gene. More than 100 different types of mutations and deletions of this gene have been found to date in Glut1 Deficiency patients.
The number of patients diagnosed is currently thought to number in the hundreds. Recent studies have estimated true prevalence to be at least 1:24,000, so the vast majority of patients remain undiagnosed. It is our hope that the CVR will act as a tool for members of the community to get them the treatment they need.
We thank Glenna Steele and the Glut1 Foundation for providing access to their data, along with Hans Hatton, the group moderator who archived the Yahoo
group data for historical reference. We would also like to thank Terry Jo Bichell and her team at CombinedBrain.
Read the full CVR at the link below: