Partial Hypoxanthine Phosphoribosyltransferase Deficiency: Unrecognized Until Adult Ages

Abstract

Hypoxanthine phosphoribosyltransferase (HPRT) is a purine metabolic enzymewhich converts hypoxanthineor guanine into IMP or GMP.One of the interesting viewpoints of HPRT deficiency is that there are two types of clinical features caused by the genetic enzyme deficiency ( 1 and 2 forreview). Thus, the severe type of the disease designated Lesch-Nyhan' s syndrome is associated with hyperuricemia and severe neuropsychological disorders characterized by a self mutilation behavior. The other milder type which is usually designated partial HPRT deficiency is associated with hyperuricemia but not with severe neuropsychological symptoms. The patients with LeschNyhan' s syndrome are usually discovered and taken care of by pediatricians, but recent extensive care has enabled the patients to grow up to over 16 years old and are observed by general physicians.