Fattal A, Spirer Z, Zoref-Shani E, Sperling O
Enzyme. 1984;31(1):55-60.
The activity and kinetic properties of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) were studied in fibroblasts from a Lesch-Nyhan syndrome (LNS) variant, with complete HGPRT deficiency in hemolysates, but with attenuated behavioral manifestation of the syndrome. The mutant HGPRT exhibited a 100-fold increase in Km for substrate phosphoribosyl-pyrophosphate, manifest in markedly decreased enzyme activity, being 2.5% of normal in cell extracts and about 0.6% of normal in intact cells. This degree of residual activity of the mutant enzyme is within the range found in patients with classical LNS.
在莱施-奈恩综合征（LNS）变异型的成纤维细胞中研究了次黄嘌呤-鸟嘌呤磷酸核糖转移酶（HGPRT）的活性和动力学特性。该变异型患者的溶血产物中HGPRT完全缺乏，但综合征的行为表现有所减轻。突变的HGPRT对底物磷酸核糖焦磷酸的Km值增加了100倍，表现为酶活性显著降低，在细胞提取物中为正常水平的2.5%，在完整细胞中约为正常水平的0.6%。突变酶的这种残留活性程度在经典LNS患者中发现的范围内。
