Lesch Nyhan Syndrome

National Organization for Rare Disorders, Inc.

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Important
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
  • hypoxanthine-guanine phosphoribosyl transferase deficiency
  • Lesch-Nyhan disease

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.

Supporting Organizations

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
Website: http://www.CLIMB.org.uk

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
Website: http://rarediseases.info.nih.gov/GARD/

International Center for Disability Resources on the Internet

5212 Covington Bend Drive,
Suite 300
Raleigh, NC 27613
Tel: (919)349-6661
Email: icdri@icdri.org
Website: http://www.icdri.org/

International Lesch-Nyhan Disease Association

11402 Ferndale St.
Philadelphia, PA 19116
USA
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
Email: lta1@nyu.edu
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
USA
Tel: (301)530-0354
Fax: (301)564-9597
Email: PurineResearchSociety@verizon.net
Website: http://www.purineresearchsociety.org

The Arc

1825 K Street NW, Suite 1200
Washington, DC 20006
Tel: (202)534-3700
Fax: (202)534-3731
Tel: (800)433-5255
Email: info@thearc.org
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 orphan@rarediseases.org

Last Updated:  1/7/1970
Copyright  2015 National Organization for Rare Disorders, Inc.