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