What is Glut1 Deficiency?
Glucose Transporter Type 1 Deficiency Syndrome (Glut1 Deficiency, G1D, Glut1 DS, or De Vivo Disease) is a genetic disorder that impairs brain metabolism. Glucose isn’t transported properly into the brain, leaving it starving for the energy it needs to grow and function.
Glut1 Deficiency causes an array of symptoms which may vary considerably from one patient to another. Some signs and symptoms may include seizures, movement disorders, speech and language disorders, and developmental delays. There are currently around 500 cases diagnosed worldwide, but experts believe there are many more patients yet to be discovered.
There is no cure for Glut1 Deficiency. The standard of care treatment is a ketogenic diet, which helps improve most symptoms for most patients by giving the brain an alternate source of energy.
The Glut1 Deficiency Foundation
The Glut1 Deficiency Foundation is a volunteer, non-profit family organization dedicated to:
- Educating others about Glut1 Deficiency by creating a forum for sharing support, experiences, resources, and information between patients, families, and healthcare professionals.
- Increasing awareness of and advocacy for Glut1 Deficiency.
- Supporting and funding researchers as they work for a cure.
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