Lesch Nyhan Syndrome / Disease

Diseases & Conditions

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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: [email protected]
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: [email protected]
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: [email protected]
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: [email protected]
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: [email protected]
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: [email protected]
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: [email protected]
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: [email protected]
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