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NINDS Disorders is an index of neurological conditions provided by the National Institute of Neurological Disorders and Stroke. This valuable tool offers detailed descriptions, facts on treatment and prognosis, and patient organization contact information for over 500 identified neurological disorders.

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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.

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.

Prognosis

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

Research

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.

View a list of studies currently seeking patients.

View more studies on this condition.

Organizations

Purine Research Society

National nonprofit organization that supports DNA research and the search for mutations in nuclear and mitochondrial DNA that might cause autistic symptoms or autistic/epileptic symptoms in patients. Offers publications and reference information, including a purine-restricted diet.

5424 Beech Avenue
Bethesda, MD 20814-1730
Tel: 301-530-0354
Fax: 301-564-1180.

National Organization for Rare Disorders (NORD)

Federation of voluntary health organizations dedicated to helping people with rare "orphan" diseases and assisting the organizations that serve them. Committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and service.

55 Kenosia Avenue
Danbury, CT 06810
Tel: 203-744-0100 Voice Mail 800-999-NORD (6673)
Fax: 203-798-2291

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