hypoxanthine:guanine phosphoribosyltransferase deficiency

(redirected from hypoxanthineguanine phosphoribosyltransferase deficiency)

hy·po·xan·thine:gua·nine phos·pho·ri·bo·syl·trans·fer·ase de·fi·cien·cy

a sex-linked inherited metabolic disorder; complete deficiency results in Lesch-Nyhan syndrome (q.v.); incomplete deficiency is associated with acute gouty arthritis and renal stones.