Lesch-Nyhan Syndrome is caused by an inherited mutation of the HPRT1 gene on the X-chromosome. Males tend to suffer more from this mutation because they only have one X-chromosome, whereas females have two. Mutations can cause excessive uritic acid accumulation, which can lead to gout and urate stones. Individuals may also have to refrain from biting their fingers and tongues. Mental retardation and sever muscle weakness can occur as well.
Gene Name: HPRT1; Hypoxanthine Phosphoribosyltransferase 1
Gene ID: 3251
The normal gene produces hypoxanthine-guanine phosphoribosyltransferase, an enzyme that speeds up the recycling of purines from broken down DNA and RNA.
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