____________ results from a genetic defect that causes a build-up of uric acid in the body.

Question

Quizplus · Accepted Answer

Lesch-Nyhan syndrome results from a genetic defect that impairs the function of an enzyme involved in purine metabolism, leading to the excessive accumulation of uric acid in the body. This can cause a range of symptoms including gout, kidney stones, spasticity, and behavioral issues such as self-injurious behavior. Cornelia de Lange syndrome, Praeder-Willi syndrome, and Williams syndrome are all genetic disorders, but they are not associated with uric acid accumulation.

____________ Results from a Genetic Defect That Causes a Build-Up