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Lesch-Nyhan syndrome is an X-linked recessive condition caused by mutation in the HGPRT gene that is located on the X chromosome and it blocks the purine salvage pathway. End result is hyperuricemia and hyperuricosuria leading to kidney stones, gouty arthritis, neurological and behavioral problems.
By nucleotides_bioscienceLesch-Nyhan syndrome is an X-linked recessive condition caused by mutation in the HGPRT gene that is located on the X chromosome and it blocks the purine salvage pathway. End result is hyperuricemia and hyperuricosuria leading to kidney stones, gouty arthritis, neurological and behavioral problems.