Lesch Nyhan syndrome
Lesch-Nyhan syndrome (pronounced: lesh-NIE-han) is a rare, inherited disorder characterized by self-mutilation, and neurological and behavioral abnormalities.
Etymology
The syndrome is named after the two American physicians, Michael Lesch and William L. Nyhan, who first described the condition in 1964.
Definition
Lesch-Nyhan syndrome is a genetic disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT), which leads to an overproduction of uric acid. This overproduction can cause gout, poor muscle control, and moderate intellectual disability. The most distinctive feature of Lesch-Nyhan syndrome is self-mutilating behaviors, characterized by lip and finger biting.
Symptoms
Symptoms of Lesch-Nyhan syndrome, which appear in the first year of life, include developmental delay, involuntary muscle movements, and overproduction of uric acid. The overproduction of uric acid can lead to crystal formation in the joints, kidneys, and central nervous system, causing gout and kidney problems.
Causes
Lesch-Nyhan syndrome is caused by mutations in the HPRT1 gene. This gene provides instructions for producing the enzyme HGPRT, which is involved in the normal recycling of purines, a type of protein. Without enough of this enzyme, the body builds up too much uric acid.
Treatment
There is no cure for Lesch-Nyhan syndrome. Treatment is symptomatic and supportive, and can include medication to control uric acid levels, physical therapy to improve muscle control, and measures to prevent self-injury.
Related Terms
External links
- Medical encyclopedia article on Lesch Nyhan syndrome
- Wikipedia's article - Lesch Nyhan syndrome
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