Glut1 Deficiency Syndrome (Glut1 DS)
Glut1 deficiency syndrome (Glut1 DS) is a genetic disorder that prevents an adequate amount of glucose from getting to the brain. The body moves glucose into the brain through a ‘vehicle’ called the Glut1 transporter, which does not function properly in people with Glut1 DS, leaving the brain starving for energy.
As a result, people with Glut1 DS may experience seizures, delays in speaking, motor problems (difficulty walking, coordinating movement, balance, etc.) and learning difficulties.
Glut1 DS affects between 3,000 and 7,000 people in the U.S.
Ultragenyx is studying investigational UX007 (triheptanoin), a purified form of a specially designed synthetic triglyceride compound, as a potential treatment option for Glut1 DS.
Other names for Glut1 DS:
- Glucose transporter type 1 deficiency syndrome
- DeVivo Disease