葡萄糖-6-磷酸脱氢酶缺乏症
磷酸戊糖途径
黄疸
葡萄糖-6-磷酸脱氢酶
脱氢酶
无症状的
葡萄糖磷酸脱氢酶缺乏症
溶血性贫血
医学
酶
生物
免疫学
生理学
内科学
生物化学
糖酵解
作者
Lucio Luzzatto,Caterina Nannelli,Rosario Notaro
标识
DOI:10.1016/j.hoc.2015.11.006
摘要
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.
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