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
Famous quotes containing the words role in, role and/or disease:
“If women’s role in life is limited solely to housewife/mother, it clearly ends when she can no longer bear more children and the children she has borne leave home.”
—Betty Friedan (20th century)
“Certainly parents play a crucial role in the lives of individuals who are intellectually gifted or creatively talented. But this role is not one of active instruction, of teaching children skills,... rather, it is support and encouragement parents give children and the intellectual climate that they create in the home which seem to be the critical factors.”
—David Elkind (20th century)
“Health is a state of complete physical, mental and social well-being, and not merely the absence of disease or infirmity.”
—Constitution of the World Health Organization.