摘要葡萄糖-6-磷酸脱氢酶(glucose-6-phosphate dehydrogenase,G6PD)是磷酸戊糖途径的第一个限速酶,其催化生成的还原型NADPH参与机体内多种生物合成途径,并对维持体内氧化-还原平衡状态起到重要作用.G 6 PD缺陷症是最常见的一种遗传性酶病,在中国呈现出南高北低的分布特点.本文就G 6 PD缺陷症的分子发病机制及其与疟疾、肿瘤、地中海贫血等疾病发生的相关性研究进展进行综述.

abstractsGlucose-6-phosphate dehydrogenase ( G 6 PD ) is the first key enzyme in the pentose phosphate pathway ( PPP ) . Its catalysate—NADPH plays an important role not only in a series of biosyn-thesis , but also in keeping the balance between oxidizing and reductive substances in the body . G 6 PD de-ficiency is one of the most common inherited enzymopathy , and its distribution is higher in the south than the north China . This article summarizes the advances in studies on the molecular pathogenesis of G 6 PD deficiency , and the correlation between G 6 PD deficiency and other diseases including malaria , tumor and thalassemia .