Lesch Nyhan Syndrome

Synonyms

• 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

• None

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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Resources

CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe, Intl CW2 6BG
United Kingdom
Tel: +44 870 7700 325
Fax: +44 870 7700 327
Email: info@climb.org.uk
Internet: http://www.CLIMB.org.uk

The Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring, MD 20910
Tel: (301)565-3842
Fax: (301)565-3843
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: 3015300354
Fax: 3015649597
Email: purine@erols.com
Internet: http://www.purineresearchsociety.org

International Lesch-Nyhan Disease Association
11402 Ferndale St.
Philadelphia, PA 19116
USA
Tel: 2156774206

Information Center on Disabled and Gifted Education
1110 North Glebe Road
Suite 300
Arlington, VA 22201-5704
Tel: (703)264-9475
Fax: (703)620-4334
Tel: (800)328-0272
TDD: (800)328-0272
Email: ericec@cec.sped.org
Internet: http://www.ericec.org

Nyhan, William L., M.D.
Professor of Pediatrics School of Medicine. University of California
San Diego. La Jolla, CA 92093-0609
Tel: (619)534-4150

Lesch-Nyhan Syndrome Registry
School of Medicine
Department of Psychiatry
18 East 13th St.
Belleevue Hospital
New York, NY 10016
Tel: (212)263-6458
Fax: (212)629-9523
Email: lta1@nyu.edu
Internet: http://www.lndinfo.org

National Institute of Neurological Disorders and Stroke (NINDS)
31 Center Drive
8A07
Bethesda, MD 20892-2540
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
Email: braininfo@ninds.nih.gov
Internet: http://www.ninds.nih.gov/

Lesch-Nyhan Syndrome Children's Research Foundation
210 South Green Bay Road
Lake Forest, IL 60045
Tel: (847)234-3154
Fax: (847)234-3136

MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: 9203365333
Fax: 9203390995
Tel: 8773365333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

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.

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:  5/26/2008
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