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Medical Term:

hypoxanthine:guanine phosphoribosyltransferase deficiency

 

Definition: 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.

© Copyright 2016 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.
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