Ask the Expert

Get answers to your Neurosurgery questions by
e-mailing Dr. Schnee.

Note: This is for informational purposes only. Doctors cannot provide a diagnosis via e-mail.

Lesch-Nyhan syndrome

Treatment:

No specific treatment exists for Lesch-Nyhan syndrome. Allopurinol has been tried, and although it decreases the uric acid concentrations, it does not improve the neurological outcome.

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

Recent advances in recombinant DNA techniques have allowed the gene responsible for the production of HGP to be cloned. Attempts will be made in the future to insert this gene into a patient's genetic material to determine if it will correct the metabolic defect.

Expectations (prognosis):

The outcome is likely to be poor, even with attempts to treat the condition.

Complications:

Severe, progressive disability is likely.

Calling your health care provider:

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.

Review Date: 6/13/2006
Reviewed By: Benjamin W. Van Voorhees, MD, MPH, Assistant Professor of Medicine and Pediatrics, The University of Chicago, Chicago, IL. Review provided by VeriMed Healthcare Network.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). URAC's accreditation program is the first of its kind, requiring compliance with 53 standards of quality and accountability, verified by independent audit. A.D.A.M. is among the first to achieve this important distinction for online health information and services. Learn more about A.D.A.M.'s editorial process . A.D.A.M. is also a founding member of Hi-Ethics (www.hiethics.com) and subscribes to the principles of the Health on the Net Foundation (www.hon.ch).

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician 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. Copyright 1997-2007 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.

Home > Medical Reference > Encyclopedia (English)