Glucose Transporter Type 1 Deficiency Syndrome

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



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



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

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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.

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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.

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.