Lesch Nyhan Syndrome
National Organization for Rare Disorders, Inc.
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.
- HGPRT deficiency
- HPRT deficiency
- hypoxanthine-guanine phosphoribosyl transferase deficiency
- Lesch-Nyhan disease
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.
CLIMB (Children Living with Inherited Metabolic Diseases)
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- Website: http://www.CLIMB.org.uk
Genetic and Rare Diseases (GARD) Information Center
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- Gaithersburg, MD 20898-8126
- Tel: (301)251-4925
- Fax: (301)251-4911
- Tel: (888)205-2311
- Website: http://rarediseases.info.nih.gov/GARD/
International Center for Disability Resources on the Internet
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- Suite 300
- Raleigh, NC 27613
- Tel: (919)349-6661
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- Website: http://www.icdri.org/
International Lesch-Nyhan Disease Association
- 11402 Ferndale St.
- Philadelphia, PA 19116
- Tel: (215)677-4206
- Website: http://www.lesch-nyhan.org/
Lesch-Nyhan Disease International Study Group
- 210 South Green Bay Road
- Lake Forest, IL 60045
- Tel: (847)234-3154
- Fax: (847)234-3136
- Website: http://www.lesch-nyhan.org
Lesch-Nyhan Syndrome Registry
- New York University School of Medicine
- Department of Psychiatry
- New York, NY 10012
- Tel: (212)263-6458
- Fax: (212)629-9523
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- Website: 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
- Website: http://www.ninds.nih.gov/
Purine Research Society
- 5424 Beech Avenue
- Bethesda, MD 20814-1730
- Tel: (301)530-0354
- Fax: (301)564-9597
- Email: PurineResearchSociety@verizon.net
- Website: http://www.purineresearchsociety.org
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- Website: http://www.thearc.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 email@example.com
Last Updated: 1/7/1970
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