Role in Disease
Mutations in the gene lead to hyperuricemia:
- Some men have partial (up to 20% less activity of the enzyme) HGPRT deficiency that causes high levels of uric acid in the blood, which leads to the development of gouty arthritis and the formation of uric acid stones in the urinary tract. This condition has been named the Kelley-Seegmiller syndrome.
- Lesch-Nyhan syndrome is due to HPRT mutations resulting in extremely ineffective enzyme activity.
- Some mutations have been linked to gout, the risk of which is increased in hyperuricemia.
Read more about this topic: Hypoxanthine-guanine Phosphoribosyltransferase
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