グルコース-6-リン酸脱水素酵素欠損症
- 英
- glucose-6-phosphate dehydrogenase deficiency
- 同
- G6PD欠損症 G6PD deficiency、グルコース-6-リン酸デヒドロゲナーゼ欠損症、ブドウ糖-6-リン酸脱水素酵素欠損症、glucose-6-phosphate dehydrogenase欠乏症、G6PD欠乏症
- 関
- ペントースリン酸経路、グルコース6-リン酸脱水素酵素 G6PD、血管内溶血、溶血性貧血、グルコース6-リン酸脱水素酵素
- G6PD is a rate-limiting enzyme in HMP shunt (which yields NADPH). NADPH is necessary to keep glutathione reduced, which in turn detoxifies free radicals and peroxides. ↓ NADPH in RBCs leads to hemolytic anemia due to poor RBC defense against oxidizing agents (fava beans, sulfonamides, primaquine) and antituberculosis drugs.
- People of Mediterranean descent can also have G6PD deficiency, but to a much greater degree. Therefore, hemolytic episodes inthe population are more severe(and can be fatal) as compared with those of the African American type, which are usually mild and felf-limited.
- G6PD deficiency is more prevalent among blacks.
- Heinz bodies..altered Hemoglobin precipitates within RBCs.
- Increased malarial resistance.
概念
- グルコース-6-リン酸脱水素酵素（G6PD）の欠損による先天性溶血性貧血