Red cell enzymes.
Red cell enzymes.
复制标题
DOI：
10.1182/asheducation-2005.1.19
复制
发表时间：
2005-01-01
期刊：
影响因子：
--
通讯作者：
Gregg, Xylina T
中科院分区：
文献类型：
--
作者：
Prchal, Josef T;Gregg, Xylina T
导致红细胞酶缺乏的突变可能与多种表型相关，包括溶血性贫血、高铁血红蛋白血症、红细胞增多症以及神经和发育异常。虽然大多数突变是零星发生的，但一些突变如常见的葡萄糖-6-磷酸脱氢酶 (G6PD) 突变是地方性的，很少引起疾病。常见的 G6PD 突变体之所以如此流行，可能是因为它们提供了一些针对严重疟疾并发症的保护作用。在这篇综述中，我们将更详细地讨论 G6PD、丙酮酸激酶、5' 核苷酸酶和细胞色素 b5 还原酶缺陷。还将强调检测这些疾病的常用筛查试验的局限性，以及关于糖酵解酶非酶功能的新知识。
Mutations leading to red cell enzyme deficiencies can be associated with diverse phenotypes that range from hemolytic anemia, methemoglobinemia, polycythemia, and neurological and developmental abnormalities. While most of these mutations occur sporadically, some such as common glucose-6-phosphate dehydrogenase (G6PD) mutants are endemic and rarely cause disease. Common G6PD mutants likely reached their prevalence because they provide some protection against severe malarial complications. In this review G6PD, pyruvate kinase, 5' nucleotidase, and cytochrome b5 reductase deficiencies will be discussed in greater detail. Limitations of commonly used screening tests for detection of these disorders will also be emphasized, as well as emerging knowledge about non-enzymatic function of the glycolytic enzymes.