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Editorial on Lesch-Nyhan Disease

Lesch-Nyhan disease is a rare and a genetic disorder of purine metabolism characterized by the deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). It is associated with 3 major clinical elements: overproduction of uric acid, neurologic disability, and behavioral problems. Purines are nitrogen-containing compounds found in many foods.


Sophia Roberts

Abstract | PDF

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