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NINDS Lesch-Nyhan Syndrome Information Page

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What is Lesch-Nyhan Syndrome?

Lesch-Nyhan syndrome (LNS) is a rare, inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). LNS is an X-linked recessive disease-- the gene is carried by the mother and passed on to her son.  LNS is present at birth in baby boys.  The lack of HPRT causes a build-up of uric acid in all body fluids, and leads to symptoms such as severe gout, poor muscle control, and moderate retardation, which appear in the first year of life.  A striking feature of LNS is self-mutilating behaviors – characterized by lip and finger biting – that begin in the second year of life.  Abnormally high uric acid levels can cause sodium urate crystals to form in the joints, kidneys, central nervous system, and other tissues of the body, leading to gout-like swelling in the joints and severe kidney problems.   Neurological symptoms include facial grimacing, involuntary writhing, and repetitive movements of the arms and legs similar to those seen in Huntington’s disease.  Because a lack of HPRT causes the body to poorly utilize vitamin B12, some boys may develop a rare disorder called megaloblastic anemia.

Is there any treatment?

Treatment for LNS is symptomatic.  Gout can be treated with allopurinol to control excessive amounts of uric acid.  Kidney stones may be treated with lithotripsy, a technique for breaking up kidney stones using shock waves or laser beams.  There is no standard treatment for the neurological symptoms of LNS.  Some may be relieved with the drugs carbidopa/levodopa, diazepam, phenobarbital, or haloperidol.

What is the prognosis?

The prognosis for individuals with LNS is poor.  Death is usually due to renal failure in the first or second decade of life. 

What research is being done?

The gene associated with LNS is known.  The NINDS supports and conducts research on genetic disorders such as LNS in an effort to find ways to prevent and treat these disorders.

NIH Patient Recruitment for Lesch-Nyhan Syndrome Clinical Trials

Organizations

Purine Research Society
5424 Beech Avenue
Bethesda, MD   20814-1730
purine@erols.com
http://www.purineresearchsociety.org
Tel: 301-530-0354
Fax: 301-564-9597

 National Organization for Rare Disorders (NORD)
P.O. Box 1968
(55 Kenosia Avenue)
Danbury, CT   06813-1968
orphan@rarediseases.org
http://www.rarediseases.org
Tel: 203-744-0100 Voice Mail 800-999-NORD (6673)
Fax: 203-798-2291


Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892



NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.

Last updated February 13, 2007