Lesch-Nyhan Syndrome
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 in 1964, the disorder is fortunately rare, occurring in less than 1 in 200,000 births. It