Symptomatic management and new therapeutic directions in Lesch‑Nyhan syndrome (Review)

Abstract

Lesch‑Nyhan Syndrome (LNS) is a rare inborn error of metabolism caused by a deficiency in the hypo‑ xanthine‑guanine phosphoribosyl transferase enzyme. The condition manifests through a range of symptoms, including dystonia, gout, megaloblastic anemia, hyperuricemia, intel‑ lectual disability and self‑mutilation behaviors. As a genetic disorder, LNS lacks a definitive cure, and current treatments are primarily symptomatic. Due to the rarity of LNS and an incomplete understanding of its complex pathophysiology, to date, to the best of our knowledge, no therapies exist that can fully address the root cause of the disease. The present review aimed to provide a comprehensive overview of the latest advancements in understanding the pathophysiology of LNS to promote the further exploration of emerging therapeutic approaches that exhibit potential for use in the management or mitigation of LNS symptoms.