Glut 1 DS web site: http://www.glut1ds.org/
Below information from - http://www.milestonesforchildren.org/glut1.html
WHAT IS GLUT1?
Glucose transporter deficiency syndrome (GLUT1) is a pediatric brain energy metabolic syndrome. GLUT1 was first discovered in 1991 by Dr. Darryl DeVivo at the Colleen Giblin Laboratories, Columbia Presbyterian Medical Center. We know of hundreds of children who have GLUT1 but believe there may be thousands of children who are undiagnosed. Having GLUT1 means that an afflicted child's cells do not pick up and transport glucose to the brain properly. Glucose is the principal source of fuel to the brain. Children with this disorder have a myriad of physical and mental disabilities, ranging from mild to so severe that they cannot walk or talk.
Symptoms
They are many, and they vary in degree. Most often, a child or infant presents with unexplainable seizures. The doctors rule out the usual causes and cannot determine why the child's seizures persist. Those affected with GLUT1 usually do not respond to anti-seizure medications. In fact, the gold standard for pediatric seizures, phenylbarbitol, actually inhibits glucose transport to the brain. So, babies and children who are put on this medication usually get even worse symptomatically.
In addition to seizures, other symptoms of GLUT1 include low muscle tone which leads to physical difficulties including problems with crawling, jumping, walking, running, riding a bike, kicking a ball and many other typical childhood physical activities. All children with GLUT1 experience problems with speech, both receptive and expressive. This means they may not be able to speak at all, or that they have slurred speech or difficulty accessing and articulating sounds and words and sentences. They also have cognitive and learning delays and disabilities. And if their brains do not get the energy needed for brain growth, microcephaly (shrunken heads) occurs. For a more thorough and scientific discussion of GLUT1 go to the Colleen Giblin Laboratories website, www.giblinlabs.org and read Dr. DeVivo's paper on GLUT1.
Treatment
The only known treatment to date is a very restrictive diet called the ketogenic diet which is usually used for children with seizure disorders that do not benefit from conventional drugs. It is a treatment of last resort for them. For children with GLUT1, it is the only treatment that may help control the seizures and hopefully help with providing energy to the brain. However, it is currently unknown how effective this treatment may be.
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Links:
2011 information on Glut 1 DS, Dr. Pascual
Report on Glut 1 DS Conference 2011
Report on Glut 1 DS Conference 2009
Glut 1 Yahoo Group
