论文部分内容阅读
自毁容貌综合征患者源于次黄嘌呤-鸟嘌呤磷酸核糖基转移酶(HGPRT)缺失,是X-连锁隐性遗传的先天性嘌呤代谢缺陷。患者智力低下,有特征性的强迫性自身毁伤行为,本文所报道的这一例HGPRT酶缺失病——自毁容貌综合征(Lesch-Nyhan综合征)。
Patients with self-disfigurement syndrome are derived from the absence of hypoxanthine-guanine phosphoribosyltransferase (HGPRT), a congenital purine metabolic defect of X-linked recessive inheritance. Patients with mental retardation, there are characteristic forced self-destructive behavior, this article reported the case of HGPRT enzyme deficiency disease - Lesion-Syndrome (Lesch-Nyhan syndrome).