与嘌呤合成加速相关的次黄嘌呤-鸟嘌呤磷酸核糖转移酶变体
Hypoxanthine-guanine phosphoribosyltransferase variant associated with accelerated purine synthesis.
作者信息
Benke P J, Herrick N, Hebert A
出版信息
J Clin Invest. 1973 Sep;52(9):2234-40. doi: 10.1172/JCI107409.
Abstract
We have previously described a 14-yr-old boy with hyperuricemia, renal failure, and accelerated purine production resistant in vivo and in vitro to purine analogs. This patient demonstrated normal red cell hypoxanthine-guanine phosphoribosyltransferase (HPRT) heat stability, electrophoresis at high pH, and activity at standard substrate levels. In the present report an abnormal HPRT enzyme was demonstrated by enzyme kinetic study with phosphoribosylpyrophosphate (PRPP) as the variable substrate and inhibitory studies with sodium fluoride. Apparently normal HPRT activity in a patient with hyperuricemia and gout does not exclude a functionally significant HPRT mutation.
摘要
我们之前描述过一名14岁男孩，他患有高尿酸血症、肾衰竭，体内外对嘌呤类似物均有加速嘌呤生成的抵抗性。该患者的红细胞次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶（HPRT）热稳定性、高pH电泳及标准底物水平下的活性均正常。在本报告中，通过以磷酸核糖焦磷酸（PRPP）作为可变底物的酶动力学研究和用氟化钠进行的抑制研究，证实了一种异常的HPRT酶。高尿酸血症和痛风患者中看似正常的HPRT活性并不排除功能上有显著意义的HPRT突变。
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Hypoxanthine-guanine phosphoribosyltransferase variant associated with accelerated purine synthesis.与嘌呤合成加速相关的次黄嘌呤-鸟嘌呤磷酸核糖转移酶变体
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