Lesch Nyhan Syndrome

National Organization for Rare Disorders, Inc.

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
  • 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, purines 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 most often affects males.

The symptoms of Lesch-Nyhan syndrome include impaired kidney function, joint pain, and self-mutilating behaviors such as lip and finger biting and/or head banging. Additional symptoms may include muscle weakness (hypotonia), uncontrolled muscle movements, and neurological impairment.
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Resources

CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe, Intl CW2 6BG
United Kingdom
Tel: +44 870 7700 325
Fax: +44 870 7700 327
Email: info.svcs@climb.org.uk
Internet: http://www.CLIMB.org.uk

Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring, MD 20910
Tel: (301)565-3842
Fax: (301)565-3843
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: purine@erols.com
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
School of Medicine
Department of Psychiatry
18 East 13th St.
Belleevue Hospital
New York, NY 10016
Tel: (212)263-6458
Fax: (212)629-9523
Email: lta1@nyu.edu
Internet: http://www.lndinfo.org

National Institute of Neurological Disorders and Stroke (NINDS)
P.O. Box 5801
Bethesda, MD 20824
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
TDD: (301)468-5981
Email: me20t@nih.gov
Internet: http://www.ninds.nih.gov/

Lesch-Nyhan Syndrome Children's Research Foundation
210 South Green Bay Road
Lake Forest, IL 60045
Tel: (847)234-3154
Fax: (847)234-3136
Internet: http://www.lesch-nyhan.org

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

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
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

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

For a Complete Report

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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