Print this page
 Email this page

 Connect with UMMC on:
 Twitter
 Facebook
 YouTube

 Share this page:

Bookmark and Share

Home > Medical Reference > Encyclopedia (English)

Toggle: English / Spanish

 

Video details

Hospital Virtual Tour

Click to take a virtual tour

Related Content


 

Lesch-Nyhan syndrome - Overview

Definition of Lesch-Nyhan syndrome:

Lesch-Nyhan syndrome is an inheritable disorder that affects how the body builds and breaks down purines. Purines are a normal part of human tissue and help make up the body's genetic blueprint. They are also found in many different foods.

Causes, incidence, and risk factors:

Lesch-Nyhan syndrome is inherited as an X-linked trait. It mostly occurs in boys. Persons with this syndrome are missing or are severely lacking an enzyme called hypoxanthine guanine phosphoribosyltransferase 1 (HGP). The body needs this enzyme to recycle purines. Without it, abnormally high levels of uric acid build up in the body.

The condition affects about 1 in 380,000 people.

  • Reviewed last on: 5/8/2008
  • Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

References

Harris J. Disorders of Purine and Pyrimidine Metabolism.In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007: Chap. 89.

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
adam.com