Which condition is characterized by increased uric acid levels?

Lesch-Nyhan syndrome is a genetic disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). This enzyme plays a crucial role in the purine salvage pathway, which recycles purines (the building blocks for DNA and RNA) back into metabolites that can be reused by the body. In the absence or deficiency of HGPRT, purines are not effectively recycled, leading to their overproduction and subsequent breakdown into uric acid. Consequently, this results in significantly elevated levels of uric acid in the blood (hyperuricemia), which can lead to uric acid crystal deposition and associated complications such as gout and kidney stones.

Other conditions listed may involve altered uric acid levels but not characteristically lead to the increased accumulation seen in Lesch-Nyhan syndrome. For example, while chronic renal failure can result in elevated uric acid levels due to reduced excretion, the hallmark of Lesch-Nyhan is the genetic defect leading to hyperuricemia. Hemolytic anemia can also lead to increased uric acid but the mechanism involves increased turnover of red blood cells rather than a metabolic defect specific to purine metabolism as seen in Lesch-N