Glut1 Deficiency Foundation

Description

• The Glut1 Deficiency Foundation is a volunteer, non-profit family organization dedicated to educating others, increasing awareness of and advocacy for Glut1 Deficiency, and supporting and funding researchers as they work for better treatments and an ultimate cure. Know as: Glut1 Deficiency, G1D, Glut1 DS, or De Vivo Disease; Glucose Transporter Type 1 Deficiency Syndrome is a genetic disorder that impairs brain metabolism. Glucose isnt transported properly into the brain, leaving it starving for the energy it needs to grow and function. Glut1 Deficiency is caused by a mutation in the SLC2A1 gene, which regulates the glucose transporter protein type 1 (Glut1). Glut1 is the principal transporter of glucose, the primary source of energy, across the blood-brain barrier. More than 100 different types of mutations and deletions of this gene have been found to date in Glut1 Deficiency patients. The impaired glucose transport associated with 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 a few hundred patients diagnosed worldwide, but experts believe there are thousands more yet to be discovered. There is no cure for Glut1 Deficiency. The current 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 and helps optimize brain growth and development. The Glut1 Deficiency Foundation was formed originally in 2009. Glut1 Deficiency is such a rare diagnosis that many families, and especially our Glut1 children, have never had the experience of meeting others who share this journey. A leadership board began to emerge in early 2011. We received our 501 (c)(3) designation from the IRS in July of 2011.
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  Headquarters:Po Box 737 , Owingsville, Kentucky, United States

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  Website: https://www.g1dfoundation.org

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  Employees:3

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  Revenue:$1 - 10M

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  Legal Name:Glut1 Deficiency Foundation

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• |  NAICS Code: 541611  |

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