Which condition involves the accumulation of uric acid due to defective purine metabolism?

The condition that involves the accumulation of uric acid due to defective purine metabolism is Lesch-Nyhan syndrome. This genetic disorder is caused by a deficiency in the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT), which plays a crucial role in purine metabolism. When this enzyme is deficient, the body cannot recycle purines effectively, leading to an increased breakdown of purines into uric acid.

As a result, patients with Lesch-Nyhan syndrome typically experience elevated levels of uric acid in their blood and urine. This can lead to various complications, particularly gouty arthritis, as the excess uric acid can crystallize in joints. In addition to uric acid build-up, Lesch-Nyhan syndrome is also characterized by neurological and behavioral abnormalities, which are significant aspects of the disorder.

The other conditions listed involve different metabolic processes or do not primarily focus on purine metabolism. For example, liver cirrhosis is related to liver damage and dysfunction, atherosclerosis pertains to the buildup of plaques in the arteries, and gout, while associated with uric acid, does not involve a defect in purine metabolism; rather, it is a consequence of high uric