Frequently asked questions (FAQs) about Glut1 DS
Seizures may appear differently in each person, and not all people affected by Glut1 DS have seizures. Absence seizures, in which a person appears to lose awareness or stares into space for a short time (and does not respond), are common in Glut1 DS.
People with Glut1 DS may experience abnormal limb movements such as twitching, flailing, writhing, and poor balance. These can be ongoing or occasional. Problems walking or running may be a sign of a movement disorder. Additionally, abnormal, involuntary eye movements that cannot be controlled have been found in people with Glut1 DS.
Children affected by Glut1 DS may experience motor (movement) and developmental delays, including learning disabilities and language difficulties.
*Even if a Glut1 DS diagnosis is not confirmed by testing, there is still a chance that you may have the disease.
SLC2A1 gene mutation. Learn about getting a no-cost genetic test for Glut1 DS.
There are currently no approved medicines for Glut1 DS, but there are treatments that may be helpful in managing symptoms. Consult your doctor about any potential Glut1 DS treatments. Learn more about caring for Glut1 DS.
If you or a family member is newly diagnosed with Glut1 DS, it’s understandable that you may want to connect with others. If so, click here to see a list of resources and independent patient advocacy groups.
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References: 1. US National Library of Medicine. Glut1 deficiency syndrome. http://ghr.nlm.nih.gov/condition/glut1-deficiency-syndrome. Updated March 2014. Accessed April 27, 2016. 2. Pearson TS, Akman C, Hinton VJ, Engelstad K, De Vivo DC. Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS). Curr Neurol Neurosci Rep. 2013;13(4):342-350. doi:10.1007/s11910-013-0342-7. 3. De Giorgis V, Veggiotti P. Glut1 deficiency syndrome 2013: current state of the art. Seizure. 2013;22(10):803-811. doi:10.1016/j.seizure.2013.07.003. 4. Wang D, Pascual JM, De Vivo D. Glucose transporter type 1 deficiency syndrome. In: Pagon RA, Adam MP, Ardinger HH, et al, eds. GeneReviews® [Internet]. Seattle, WA: University of Washington, Seattle; 1993-2016. http://www.ncbi.nlm.nih.gov/books/NBK1430/. Published July 30, 2002. Updated January 22, 2015. 5. De Vivo DC, Trifiletti RR, Jacobson RI, Ronen GM, Behmand RA, Harik SI. Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. N Engl J Med. 1991;325(10):703-709. 6. Ultragenyx announces positive data from investigator-sponsored trial of triheptanoin in glucose transporter type-1 deficiency syndrome [news release]. Novato, CA: Ultragenyx Pharmaceutical Inc.; April 22, 2015. http://ir.ultragenyx.com/releasedetail.cfm?releaseid=907860. Accessed March 28, 2016.