Q and A: about health and research

Lesch-Nyhan syndrome is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT), which plays a significant role in the recycling of purines in cells. Purines are essential molecules that serve numerous roles in the body, including the building blocks of DNA and RNA. The lack of HGPRT causes abnormalities in the way the body builds and breaks down purines, leading to an overproduction of uric acid, a substance that is normally found in urine in small amounts. High levels of uric acid can lead to a range of problems, including gout, kidney stones, and kidney failure. This syndrome is much more than a metabolic disorder, however, as it also involves neurological and behavioral symptoms. The condition is characterized by the following: Neurological dysfunction: Individuals with Lesch-Nyhan syndrome often present with muscular hypertonia (increased muscle tone), dystonia (involuntary muscle contractions), and chorea (sudden, rap...