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丙酮酸激酶(PK)缺陷症是1961年Valentine等对7例先天性非球形细胞性溶血性贫血(CNHA)Ⅱ型患者作红细胞糖酵解诸酶的分析时发现的,它是一种常染色体隐性遗传病。过去认为罕见,随着酶分析技术的改进和发展,其检出率逐渐增高。至今,世界上已报道300多例,以北欧多见,分布较广,发生率仅次于葡萄糖6-磷酸脱氢酶缺陷,而在糖酵解通路中为最常见的一种遗传性红细胞酶病。丙酮酸激酶 PK为红细胞糖酵解通路末期的一个酶,催化如下反应: PK 磷酸烯醇式丙酮酸+ADP-→丙酮酸+ATP
Pyruvate kinase (PK) deficiency is found in Valentine’s et al. In 1961, when analyzing erythrocyte glycolytic enzymes in seven patients with congenital non-hemophagocytic hemolytic anemia (CNHA) type Ⅱ. It is an autosomal Recessive genetic disease. The past considered rare, with the improvement and development of enzyme analysis technology, the detection rate gradually increased. So far, more than 300 cases have been reported in the world, more common in North Europe, more widespread, the incidence of glucose 6-phosphate dehydrogenase deficiency, and in the glycolytic pathway is the most common type of hereditary erythrocytic enzymes disease. Pyruvate kinase PK is an enzyme at the end of the red blood cell glycolysis pathway that catalyzes the following reactions: PK phosphoenolpyruvate + ADP- → pyruvate + ATP