Luzzatto Lucio, Nannelli Caterina, Notaro Rosario
Scientific Direction, Istituto Toscano Tumori, Viale Pieraccini 6, Florence 50139, Italy; University of Florence, Florence, Italy.
Core Research Laboratory-Istituto Toscano Tumori, Azienda Universitaria-Ospedaliera Careggi, Viale Pieraccini 6, Florence 50139, Italy.
Hematol Oncol Clin North Am. 2016 Apr;30(2):373-93. doi: 10.1016/j.hoc.2015.11.006.
G6PD is a housekeeping gene expressed in all cells. Glucose-6-phosphate dehydrogenase (G6PD) is part of the pentose phosphate pathway, and its main physiologic role is to provide NADPH. G6PD deficiency, one of the commonest inherited enzyme abnormalities in humans, arises through one of many possible mutations, most of which reduce the stability of the enzyme and its level as red cells age. G6PD-deficient persons are mostly asymptomatic, but they can develop severe jaundice during the neonatal period and acute hemolytic anemia when they ingest fava beans or when they are exposed to certain infections or drugs. G6PD deficiency is a global health issue.
葡萄糖-6-磷酸脱氢酶(G6PD)是一种在所有细胞中均有表达的管家基因。葡萄糖-6-磷酸脱氢酶(G6PD)是磷酸戊糖途径的一部分,其主要生理作用是提供还原型辅酶II(NADPH)。葡萄糖-6-磷酸脱氢酶缺乏症是人类最常见的遗传性酶异常之一,由多种可能的突变之一引起,其中大多数突变会随着红细胞老化而降低该酶的稳定性及其水平。葡萄糖-6-磷酸脱氢酶缺乏症患者大多无症状,但在新生儿期可能会出现严重黄疸,在摄入蚕豆或接触某些感染或药物时会发生急性溶血性贫血。葡萄糖-6-磷酸脱氢酶缺乏症是一个全球性的健康问题。