What is a significant laboratory finding in patients with Lesch-Nyhan Syndrome?

In Lesch-Nyhan Syndrome, a significant laboratory finding is hyperuricemia, which refers to elevated levels of uric acid in the blood. This condition is caused by a deficiency in the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT), which is involved in the purine salvage pathway. The deficiency leads to an accumulation of uric acid due to increased degradation of purines. As a result, affected individuals often develop gout, kidney stones, and other complications associated with high uric acid levels.

The presence of hyperuricemia is a key diagnostic marker for Lesch-Nyhan Syndrome and helps differentiate it from other disorders. Understanding this metabolic disruption is crucial for genetic counseling and management of the syndrome, as it affects treatment strategies and the monitoring of associated health issues.