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.
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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Genetic and Rare Diseases (GARD) Information Center
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International Center for Disability Resources on the Internet
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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
NIH/National Institute of Neurological Disorders and Stroke
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- Website: http://www.thearc.org
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This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
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Last Updated: 5/13/2015
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