Glucose Transporter Type 1 Deficiency Syndrome
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Glucose Transporter Type 1 Deficiency Syndrome is not the name you expected.
Glucose transporter type 1 (Glut1) deficiency syndrome is a rare genetic metabolic disorder characterized by deficiency of a protein that is required for glucose (a simple sugar) to cross the blood-brain barrier. The most common symptom is seizures (epilepsy), which usually begin within the first few months of life. However, the symptoms and severity of Glut1 deficiency syndrome can vary substantially from one person to another. For example, some affected individuals may not develop epilepsy. Additional symptoms that can occur include movement disorders, developmental delays, and varying degrees of cognitive impairment and speech and language abnormalities. Glut1 deficiency syndrome is caused by mutations in the SLC2A1 gene and is inherited as an autosomal dominant trait. Rarely, the condition also may be inherited as an autosomal recessive trait. Glut1 deficiency syndrome does not respond to traditional epilepsy treatments (e.g., anti-seizure medications), but has been successfully treated with the ketogenic diet.
Glut1 deficiency syndrome was first described in the medical literature in 1991 by Dr. De Vivo, et al. The disorder is sometimes known as De Vivo disease. Glut1 deficiency syndrome is classified as an epileptic encephalopathy. Epileptic encephalopathies are a group of disorders in which seizure activity is associated with progressive psychomotor dysfunction. Paroxysmal exercised-induced dyskinesias (PED), also known previously as dystonia 18 and dystonia 9, are now considered part of the Glut1 deficiency syndrome spectrum. Epilepsy commonly presents in infancy whereas PED commonly emerges in late childhood and adolescence.
American Epilepsy Society
- 135 South LaSalle Street
- Suite 2850
- Chicago, IL 60603
- Tel: 312-883-3800
- Email: firstname.lastname@example.org
- Website: http://www.aesnet.org
CLIMB (Children Living with Inherited Metabolic Diseases)
- Climb Building
- 176 Nantwich Road
- Crewe, CW2 6BG
- United Kingdom
- Tel: 4408452412173
- Fax: 4408452412174
- Email: email@example.com
- Website: http://www.CLIMB.org.uk
CURE: Citizens United for Research in Epilepsy
- 430 W. Erie
- Suite Suite 210
- Chicago, IL 60654
- Tel: (312)765-7118
- Fax: (312)255-1801
- Tel: (800)765-7118
- Email: info@CUREepilepsy.org
- Website: http://www.CUREepilepsy.org
- 8301 Professional Place
- Landover, MD 20785-7223
- Tel: (866)330-2718
- Fax: (877)687-4878
- Tel: (800)332-1000
- Email: ContactUs@efa.org
- Website: http://www.epilepsyfoundation.org
Genetic and Rare Diseases (GARD) Information Center
- PO Box 8126
- Gaithersburg, MD 20898-8126
- Tel: (301)251-4925
- Fax: (301)251-4911
- Tel: (888)205-2311
- Website: http://rarediseases.info.nih.gov/GARD/
Glut1 Deficiency Foundation
- PO Box 943
- Westfield, IN 46074-0943
- Tel: (859)585-2538
- Email: firstname.lastname@example.org
- Website: http://www.glut1ds.org
International League Against Epilepsy
- 342 North Main Street
- West Hartford, CT 06117-2507
- Tel: (860)586-7547
- Fax: (860)586-7550
- Email: email@example.com
- Website: http://www.ilae.org/
Intractable Childhood Epilepsy Alliance (ICE)
- PO Box 365
- 250 Lewisville-Vienna Road
- Lewisville, NC 27023
- Tel: (336)918-9440
- Fax: (336)946-1197
- Website: http://www.icepilepsy.org
NIH/National Institute of Neurological Disorders and Stroke
- P.O. Box 5801
- Bethesda, MD 20824
- Tel: (301)496-5751
- Fax: (301)402-2186
- Tel: (800)352-9424
- Website: http://www.ninds.nih.gov/
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.
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This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Last Updated: 6/29/2015
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