Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Lesch Nyhan Syndrome


Synonyms of Lesch Nyhan Syndrome
  • Hereditary Hyperuricemia and Choreoathetosis Syndrome
  • HGPRT, Absence of
  • HPRT, Absence of
  • Hyperuricemia, Choreoathetosis, Self-multilation Syndrome
  • Hyperuricemia-Oligophrenia
  • Hypoxanthine-Guanine Phosphoribosyltranferase Defec. (Complete Absense of)
  • Juvenile Gout, Choreoathetosis, and Mental Retardation Syndrome
  • Nyhan Syndrome

Disorder Subdivisions



    General Discussion
    Lesch-Nyhan syndrome is a rare inborn error of purine metabolism characterized by the absence or deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). Purine, a nitrogen-containing compound found in many foods (e.g., organ meats, poultry, and legumes) is not broken down properly due to the absence of HPRT. Uric acid levels are abnormally high in people with Lesch-Nyhan syndrome and sodium urate crystals may abnormally accumulate in the joints, kidneys, central nervous system, and other tissues of the body. Lesch-Nyhan syndrome is inherited as an X-linked recessive genetic disorder that most often affects males.

    The symptoms of Lesch-Nyhan syndrome include impaired kidney function, joint pain, and self-mutilating behaviors such as lip and finger biting and/or head banging. Additional symptoms may include muscle weakness (hypotonia), uncontrolled spastic muscle movements, and neurological impairment.
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    Organizations related to Lesch Nyhan Syndrome
    • CLIMB (Children Living with Inherited Metabolic Diseases)
      Climb Building
      Crewe Intl CW2 6BG
      Phone #: +44- 87-0 7700 325
      800 #: --
      e-mail: info@climb.org.uk
      Home page: http://www.CLIMB.org.uk
    • Information Center on Disabled and Gifted Education
      1110 North Glebe Road
      Arlington VA 22201-5704
      Phone #: 703-264-9475
      800 #: 800-328-0272
      e-mail: ericec@cec.sped.org
      Home page: http://www.ericec.org
    • International Lesch-Nyhan Disease Association
      11402 Ferndale St.
      Philadelphia PA 19116
      Phone #: 215-677-4206
      800 #: --
      e-mail: N/A
      Home page: N/A
    • Lesch-Nyhan Syndrome Children's Research Foundation
      210 South Green Bay Road
      Lake Forest IL 60045
      Phone #: 847-234-3154
      800 #: --
      e-mail: N/A
      Home page: N/A
    • Lesch-Nyhan Syndrome Registry
      School of Medicine
      New York NY 10016
      Phone #: 212-263-6458
      800 #: --
      e-mail: lta1@nyu.edu
      Home page: http://www.lndinfo.org
    • MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
      150 Custer Court
      Green Bay WI 54301-1243
      Phone #: 920-336-5333
      800 #: 877-336-5333
      e-mail: mums@netnet.net
      Home page: http://www.netnet.net/mums/
    • Madisons Foundation
      PO Box 241956
      Los Angeles CA 90024
      Phone #: 310-264-0826
      800 #: N/A
      e-mail: getinfo@madisonsfoundation.org
      Home page: http://www.madisonsfoundation.org
    • National Institute of Neurological Disorders and Stroke (NINDS)
      31 Center Drive
      Bethesda MD 20892-2540
      Phone #: 301-496-5751
      800 #: 800-352-9424
      e-mail: braininfo@ninds.nih.gov
      Home page: http://www.ninds.nih.gov/
    • Nyhan, William L., M.D.
      Professor of Pediatrics School of Medicine. University of California
      San Diego. La Jolla CA 92093-0609
      Phone #: 619-534-4150
      800 #: --
      e-mail: N/A
      Home page: N/A
    • Purine Research Society
      5424 Beech Avenue
      Bethesda MD 20814-1730
      Phone #: 301-530-0354
      800 #: --
      e-mail: purine@erols.com
      Home page: http://www.purineresearchsociety.org
    • The Arc (a national organization on mental retardation)
      1010 Wayne Ave
      Silver Spring MD 20910
      Phone #: 301-565-3842
      800 #: 800-433-5255
      e-mail: info@thearc.org
      Home page: http://www.thearc.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