Lesch-Nyhan Syndrome

Robert T. Brown & Katherine D. Falwell

In: Encyclopedia of Human Development

Lesch-Nyhan Syndrome

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  • Lesch-Nyhan syndrome is an X-linked recessive inborn error of purine metabolism caused by absence of, or deficiency in, hypoxanthine-guanine phosphoribosyl transferase (HPRT). HPRT metabolizes hypoxanthine and guanine to uric acid. First described in two brothers by Lesch and Nyhan ...

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