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    Glucose Transporter Type 1 Deficiency Syndrome

    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.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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