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
- Lesch-Nyhan disease
- hypoxanthine-guanine phosphoribosyl transferase deficiency
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)
176 Nantwich Road
Crewe, CW2 6BG
1825 K Street NW, Suite 1200
Washington, DC 20006
Purine Research Society
5424 Beech Avenue
Bethesda, MD 20814-1730
International Lesch-Nyhan Disease Association
11402 Ferndale St.
Philadelphia, PA 19116
International Center for Disability Resources on the Internet
5212 Covington Bend Drive,
Raleigh, NC 27613
Lesch-Nyhan Syndrome Registry
New York University School of Medicine
Department of Psychiatry
550 First Avenue
New York, NY 10012
NIH/National Institute of Neurological Disorders and Stroke
P.O. Box 5801
Bethesda, MD 20824
Lesch-Nyhan Disease International Study Group
210 South Green Bay Road
Lake Forest, IL 60045
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024
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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
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Last Updated: 3/2/2012
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