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Glucose Transporter Type 1 Deficiency Syndrome

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Glucose Transporter Type 1 Deficiency Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Glut1-DS
  • Glucose Transporter Protein Syndrome
  • De Vivo Disease
  • Glut-1 Deficiency Syndrome

Disorder Subdivisions

  • None

General Discussion

Summary
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.

Introduction
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 leads to progressive psychomotor dysfunction. Paroxysmal exercised-induced dyskinesia, also known as dystonia 18, is now considered part of the Glut1 deficiency syndrome spectrum.

Resources

Children Living with Inherited Metabolic Diseases (CLIMB)
Climb Building
176 Nantwich Road
Crewe, Intl CW2 6BG
United Kingdom
Tel: 0845 241 2174
Tel: 800 652 3181
Email: info.svcs@climb.org.uk
Internet: http://www.CLIMB.org.uk

WE MOVE (Worldwide Education and Awareness for Movement Disorders)
5731 Mosholu Avenue
Bronx, NY 10471
USA
Tel: (347)843-6132
Fax: (718)601-5112
Email: wemove@wemove.org
Internet: http://www.wemove.org

Epilepsy Foundation
8301 Professional Place
Landover, MD 20785
Tel: (301)459-3700
Fax: (301)577-2684
Tel: (800)332-1000
TDD: (800)332-2070
Email: info@efa.org
Internet: http://www.epilepsyfoundation.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
TDD: (301)468-5981
Email: me20t@nih.gov
Internet: http://www.ninds.nih.gov/

American Epilepsy Society
342 North Main Street
West Hartford, CT 06117-2507
Tel: (860)586-7505
Fax: (860)586-7550
Email: khucks@aesnet.org
Internet: http://www.aesnet.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
TDD: (888)205-3223
Internet: http://rarediseases.info.nih.gov/GARD/

Intractable Childhood Epilepsy Alliance (ICE)
PO Box 365
250 Lewisville-Vienna Road
Lewisville, NC 27023
Tel: (336)918-9440
Fax: (336)946-1197
Internet: http://www.icepilepsy.org

International League Against Epilepsy
342 North Main Street
West Hartford, CT 06117-2507
Tel: (860)586-7547
Fax: (860)201-1111
Email: info@ilae.org
Internet: http://www.ilae-epilepsy.org/

CURE: Citizens United for Research in Epilepsy
223 W. Erie
Suite 2SW,
Chicago, IL 60654
Tel: (312)765-7118
Fax: (312)255-1801
Tel: (800)765-7118
Email: info@CUREepilepsy.org
Internet: http://www.CUREepilepsy.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, 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. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

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.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  8/24/2011
Copyright  2011 National Organization for Rare Disorders, Inc.

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