Lesch-Nyhan Syndrome
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What is Lesch-Nyhan Syndrome?
Is there any treatment?
What is the prognosis?
What research is being done?
Organizations
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?
What is the prognosis?
What research is being done?
Select this link to view a list of studies currently seeking patients.
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 |
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Last updated February 13, 2007