Lesch-nyhan syndrome

The locus of HPRT1 on the X chromosome

Brief Background

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.

Our mission is to make the public more aware of the causes, diagnosis, symptoms, treatments, and effects of this disease.

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Facts and Where to Find Out More*

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Examples of Those Affected

These unfortunate young men are just a few examples of the effects of Lesch-Nyhan syndrome:

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Several young Italian men affected by LNS.

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