Lesch-Nyhan Syndrome

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.

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

Source: National Institutes of Health; National Institute of Neurological Disorders and Stroke

 

This information is provided by the Cleveland Clinic and is not intended to replace the medical advice of your doctor or health care provider. Please consult your health care provider for advice about a specific medical condition. For additional health information, please contact the Center for Consumer Health Information at the Cleveland Clinic (216) 444-3771 or toll-free (800) 223-2273 extension 43771. If you prefer, you may visit www.clevelandclinic.org/health/ or www.clevelandclinicflorida.org. This document was last reviewed on: 2/13/2007

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