"Glucose transporter type1 (GLUT-1) deficiency is a rare, but preventable cause of severe learning difficulties - and therefore there is an urgency in making an early diagnosis. Suspicions must be roused when intractable seizures occur in infancy"
"In certain metabolic diseases affecting brain energy metabolism the ketogenic diet is the treatment of choice. GLUT1 deficiency syndrome is such a disorder ... the ketogenic diet provides ketones as an alternative fuel to restore brain energy metabolism. Most patients become seizure-free on the diet and improve in motor and mental development"
Our son was born in 1994 and his condition has remained undiagnosed until we received this surprising news in October 2009. It is a huge relief to have the diagnosis, and we hope find a treatment to help to manage his condition.
We have created this site to try and help raise awareness about Glut-1 DS, to share the information we learn, and hopefully to learn from others.
Because of the importance of early diagnosis, we hope to help to raise awareness of Glut-1 DS to ensure that more children can be helped at an early age.