Lesch—Nyhan综合征是一种罕见的嘌呤代谢遗传病,1964年首先由Lesch M和Nyhan W L报道。其传递方式为X连接链的隐性遗传。发病率约为新生儿的十万分之一,男性发病,发病与种族无关。实际上是体内次黄嘌呤鸟嘌呤——磷酸核糖甙转移酶(HGPRT)的完全缺乏。这种酶的缺乏导致产生了超量的尿酸产物,比典型的痛风或其它高尿酸血症的尿酸产物还高。本病临床特征是出现一种奇异的带有强迫性的自身肢体残毁现象,即自己咬唇、咬臂、咬腿以致 Lesch-Nyhan syndrome is a rare genetic disease of purine metabolism, first reported by Lesch M and Nyhan W L in 1964. Its transmission is the recessive inheritance of X-linked chains. The incidence is about one hundred thousandth of a newborn, male onset, the incidence has nothing to do with race. Is actually a complete lack of hypoxanthine guanine-phosphoribosyltransferase (HGPRT) in the body. This lack of enzyme results in the production of an excess of uric acid product, which is higher than that of typical gout or other hyperuricemic uric acid products. The clinical features of this disease is the emergence of a strange with its own physical remnants of the phenomenon of residual limbs, that is, bite their lips, bite the arm, biting the leg so that