Lesch-Nyhan's syndrome (patient information)

Revision as of 19:07, 29 July 2011 by Varun Kumar (talk | contribs)
Jump to navigation Jump to search

For the WikiDoc page for this topic, click here

WikiDoc Resources for Lesch-Nyhan's syndrome (patient information)

Articles

Most recent articles on Lesch-Nyhan's syndrome (patient information)

Most cited articles on Lesch-Nyhan's syndrome (patient information)

Review articles on Lesch-Nyhan's syndrome (patient information)

Articles on Lesch-Nyhan's syndrome (patient information) in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Lesch-Nyhan's syndrome (patient information)

Images of Lesch-Nyhan's syndrome (patient information)

Photos of Lesch-Nyhan's syndrome (patient information)

Podcasts & MP3s on Lesch-Nyhan's syndrome (patient information)

Videos on Lesch-Nyhan's syndrome (patient information)

Evidence Based Medicine

Cochrane Collaboration on Lesch-Nyhan's syndrome (patient information)

Bandolier on Lesch-Nyhan's syndrome (patient information)

TRIP on Lesch-Nyhan's syndrome (patient information)

Clinical Trials

Ongoing Trials on Lesch-Nyhan's syndrome (patient information) at Clinical Trials.gov

Trial results on Lesch-Nyhan's syndrome (patient information)

Clinical Trials on Lesch-Nyhan's syndrome (patient information) at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Lesch-Nyhan's syndrome (patient information)

NICE Guidance on Lesch-Nyhan's syndrome (patient information)

NHS PRODIGY Guidance

FDA on Lesch-Nyhan's syndrome (patient information)

CDC on Lesch-Nyhan's syndrome (patient information)

Books

Books on Lesch-Nyhan's syndrome (patient information)

News

Lesch-Nyhan's syndrome (patient information) in the news

Be alerted to news on Lesch-Nyhan's syndrome (patient information)

News trends on Lesch-Nyhan's syndrome (patient information)

Commentary

Blogs on Lesch-Nyhan's syndrome (patient information)

Definitions

Definitions of Lesch-Nyhan's syndrome (patient information)

Patient Resources / Community

Patient resources on Lesch-Nyhan's syndrome (patient information)

Discussion groups on Lesch-Nyhan's syndrome (patient information)

Patient Handouts on Lesch-Nyhan's syndrome (patient information)

Directions to Hospitals Treating Lesch-Nyhan's syndrome (patient information)

Risk calculators and risk factors for Lesch-Nyhan's syndrome (patient information)

Healthcare Provider Resources

Symptoms of Lesch-Nyhan's syndrome (patient information)

Causes & Risk Factors for Lesch-Nyhan's syndrome (patient information)

Diagnostic studies for Lesch-Nyhan's syndrome (patient information)

Treatment of Lesch-Nyhan's syndrome (patient information)

Continuing Medical Education (CME)

CME Programs on Lesch-Nyhan's syndrome (patient information)

International

Lesch-Nyhan's syndrome (patient information) en Espanol

Lesch-Nyhan's syndrome (patient information) en Francais

Business

Lesch-Nyhan's syndrome (patient information) in the Marketplace

Patents on Lesch-Nyhan's syndrome (patient information)

Experimental / Informatics

List of terms related to Lesch-Nyhan's syndrome (patient information)

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate-Editor(s)-In-Chief: Varun Kumar, M.B.B.S.

Overview

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.

What are the symptoms of Lesch-Nyhan syndrome?

The excess uric acid levels cause children to develop gout-like swelling in some of their joints. In some cases, kidney and bladder stones develop because of the high uric acid levels.

Males with Lesch-Nyhan have delayed motor development followed by bizarre, sinuous movements and increased deep tendon reflexes. A striking feature of Lesch-Nyhan syndrome is self-destructive behavior characterized by chewing off fingertips and lips, if not restrained. It is unknown how the enzyme deficiency causes these problems.

What causes Lesch-Nyhan syndrome?

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.

When to seek urgent medical care?

Call your health care provider if signs of this illness appear in your child or if there is a history of Lesch-Nyhan syndrome in your family.

Diagnosis

There may be a family history of this condition.

The doctor will perform a physical exam. The exam may show:

  • Overexaggerated reflexes
  • Spasticity

Blood and urine tests may reveal high uric acid levels. A skin biopsy may show decreased levels of the HGP enzyme.

Treatment options

No specific treatment exists for Lesch-Nyhan syndrome. The gout medication, allopurinol, successfully decreases uric acid levels, but does not improve the neurological outcome.

Some symptoms may be relieved with the drugs carbidopa/levodopa, diazepam, phenobarbital, or haloperidol.

Where to find medical care for?

Directions to Hospitals Treating Lesch-Nyhan syndrome

What to expect (Outlook/Prognosis)?

The outcome is likely to be poor. Persons with this syndrome usually require assistance walking and sitting and generally need a wheelchair to get around.

Possible complications

Severe, progressive disability is likely.

Sources

http://www.nlm.nih.gov/medlineplus/ency/article/001655.htm