Lesch-Nyhan syndrome (LNS) is a genetic disorder that causes delayed metabolic processes and development (also known as a purine metabolism malfunction). It is caused by the lack of or very low level of the enzyme HPRT (hypoxanthine-guanine phosphoribosyltransferase), which is caused by a mutation of the HPRT1 gene on the X chromosome. The symptom that causes the widespread effects is the build up of uric acid in joint areas throughout the body. LNS is an X-linked disorder and has various symptoms including mental retardation and developmental delay.
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Examples of Those Affected
These unfortunate young men are just a few examples of the effects of Lesch-Nyhan syndrome:
Image courtesy of http://www.lesch-nyhan.eu/en/disease.html.
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