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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

CLIMB (Children Living with Inherited Metabolic Diseases)

Climb Building

176 Nantwich Road

Crewe, CW2 6BG

United Kingdom

Tel: 4408452412173

Fax: 4408452412174

Email: enquiries@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 20785-7223

Tel: (866)330-2718

Fax: (877)687-4878

Tel: (800)332-1000

TDD: (800)332-2070

Email: ContactUs@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

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)586-7550

Email: info@ilae.org

Internet: http://www.ilae.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



Glut1 Deficiency Foundation

PO Box 943

Westfield, IN 46074-0943

Tel: (859)585-2538

Email: gsteele@g1dfoundation.org

Internet: http://www.glut1ds.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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