METABOLIC DISORDERS: LESCH-NYHAN SYNDROME
Keywords: Lesch-Nyhan syndrome, Neurological, Uric acid
AbstractLesch-Nyhan syndrome is a condition characterized by neurological and behavioral abnormalities and the overproduction of uric acid in the body. According to one estimate, the disorder occurs at a rate of approximately 1 in 400,000 births in the world. It occurs almost exclusively in males due to being an X-linked recessive disorder. Excess uric acid production and Neurological disorders with characteristic self-mutilating behaviors are major symptoms of LNS. LNS is a rare inborn error of purine metabolism characterized by the absence or deficiency of the activity of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT), Mutations in the HPRT1 gene cause LNS. Treatment for LNS is symptomatic, Gout treated with allopurinol; Kidney stones with lithotripsy; No standard treatment for the neurological symptoms of LNS.
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