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    Lesch Nyhan Syndrome

    Important
    It is possible that the main title of the report Lesch Nyhan 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

    • HGPRT deficiency
    • HPRT deficiency
    • Lesch-Nyhan disease
    • hypoxanthine-guanine phosphoribosyl transferase deficiency

    Disorder Subdivisions

    • None

    General Discussion

    Lesch-Nyhan syndrome is a rare inborn error of purine metabolism characterized by the absence or deficiency of the activity of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). Purines are nitrogen-containing compounds found in many foods (e.g., organ meats, poultry, and legumes). In the absence of HPRT, the purines hypoxanthine and guanine are not built into nucleotides. Uric acid levels are abnormally high in people with Lesch-Nyhan syndrome and sodium urate crystals may abnormally accumulate in the joints and kidneys. Lesch-Nyhan syndrome is inherited as an X-linked recessive genetic disorder that, with rare female exceptions, most often affects males.

    The symptoms of Lesch-Nyhan syndrome include impaired kidney function, acute gouty arthritis, and self-mutilating behaviors such as lip and finger biting and/or head banging. Additional symptoms include involuntary muscle movements, and neurological impairment.

    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

    The Arc
    1825 K Street NW, Suite 1200
    Washington, DC 20006
    Tel: (202)534-3700
    Fax: (202)534-3731
    Tel: (800)433-5255
    TDD: (817)277-0553
    Email: info@thearc.org
    Internet: http://www.thearc.org

    Purine Research Society
    5424 Beech Avenue
    Bethesda, MD 20814-1730
    USA
    Tel: (301)530-0354
    Fax: (301)564-9597
    Email: PurineResearchSociety@verizon.net
    Internet: http://www.purineresearchsociety.org

    International Lesch-Nyhan Disease Association
    11402 Ferndale St.
    Philadelphia, PA 19116
    USA
    Tel: (215)677-4206
    Internet: http://www.lesch-nyhan.org/

    International Center for Disability Resources on the Internet
    5212 Covington Bend Drive,
    Suite 300
    Raleigh, NC 27613
    Tel: (919)349-6661
    TDD: (800)328-0272
    Email: icdri@icdri.org
    Internet: http://www.icdri.org/

    Lesch-Nyhan Syndrome Registry
    New York University School of Medicine
    Department of Psychiatry
    550 First Avenue
    Bellevue Hospital
    New York, NY 10012
    Tel: (212)263-6458
    Fax: (212)629-9523
    Email: lta1@nyu.edu
    Internet: http://www.lndinfo.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/

    Lesch-Nyhan Disease International Study Group
    210 South Green Bay Road
    Lake Forest, IL 60045
    Tel: (847)234-3154
    Fax: (847)234-3136
    Internet: http://www.lesch-nyhan.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/

    Madisons Foundation
    PO Box 241956
    Los Angeles, CA 90024
    Tel: (310)264-0826
    Fax: (310)264-4766
    Email: getinfo@madisonsfoundation.org
    Internet: http://www.madisonsfoundation.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: 3/2/2012
    Copyright 1986, 1990, 1995, 1996, 1998, 2000, 2001, 2009, 2012 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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