Lesch-Nyhan Syndrome Causes

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Causes of Lesch-Nyhan Syndrome


Lesch-Nyhan syndrome is caused by a mutation or change in a gene. This change results in the absence of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). HPRT is needed to metabolize uric acid. Without this enzyme, uric acid builds up in the central nervous system, kidneys, and other areas of the body.

This gene mutation occurs on the X chromosome. It can either be a new mutation in the affected person or inherited from his mother, who is a carrier.


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