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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, 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.

Resources

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

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



The Arc

1825 K Street NW, Suite 1200

Washington, DC 20006

Tel: (202)534-3700

Fax: (202)534-3731

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: PurineResearchSociety@verizon.net

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

New York University School of Medicine

Department of Psychiatry

550 First Avenue

Bellevue Hospital

New York, NY 10012

Tel: (212)263-6458

Fax: (212)629-9523

Email: lta1@nyu.edu

Internet: 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

TDD: (301)468-5981

Internet: http://www.ninds.nih.gov/



Lesch-Nyhan Disease International Study Group

210 South Green Bay Road

Lake Forest, IL 60045

Tel: (847)234-3154

Fax: (847)234-3136

Internet: http://www.lesch-nyhan.org



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

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



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

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 MyD-H, the Dartmouth-Hitchcock patient portal. You must be a registered MyD-H user for the Lebanon, Manchester, or Nashua locations to access this site.

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:  3/2/2012

Copyright  1986, 1990, 1995, 1996, 1998, 2000, 2001, 2009, 2012 National Organization for Rare Disorders, Inc.

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