Skip to Content

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.

Further information

Always consult your healthcare provider to ensure the information displayed on this page applies to your personal circumstances.

© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.

Hide