Lesch-Nyhan syndrome (LNS) is a rare X-linked disease caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). This deficiency results in a defect in purine recycling, leading to the accumulation of urate crystals in joints and the urinary tract, causing kidney stones. Other clinical features include neurological impairment, cognitive dysfunction, and self-injurious behavior.
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Caruso et al. (2024) studied this question.
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