Tarui S, Kono N, Kuwajima M, Kitani T
Hemoglobin. 1980;4(5-6):581-92. doi: 10.3109/03630268008997728.
Specific deficiency of erythrocyte phosphofructokinase (PFK) activity in Type VII glycogenosis presents a good model for the analysis of the relationship between 2,3 diphosphoglycerate (2,3 DPG) level and glycolysis in erythrocytes since glycolytic flow is partially blocked at the regulatory step. Enzymatic analyses of glycolytic intermediates of erythrocytes from a patient with Type VII glycogenosis demonstrated that 2,3 DPG is markedly decreased in parallel with fructose-1,6-phosphate (FDP). In acidosis including diabetic ketoacidosis and uremic acidosis a fall in 2,3 DPG is also associated with a marked reduction in FDP. On the other hand, in respiratory alkalosis glycolytic intermediates shift to the opposite direction and forward crossover at PFK step appears, being associated with an elevation of 2,3 DPG. These data indicate a close relationship between 2,3 DPG level and PFK activity in erythrocytes. At least in acidosis and alkalosis the alteration in 2,3 DPG level may well be explained by changes in PFK activity caused mainly through allosteric mechanism. In addition, twelve cases with hereditary PFK deficiency in muscle and erythrocytes reported in the world are reviewed and discussed briefly.
VII型糖原贮积病中红细胞磷酸果糖激酶（PFK）活性的特异性缺乏为分析红细胞中2,3-二磷酸甘油酸（2,3-DPG）水平与糖酵解之间的关系提供了一个良好的模型，因为在调节步骤糖酵解流部分受阻。对一名VII型糖原贮积病患者红细胞糖酵解中间产物的酶学分析表明，2,3-DPG与1,6-二磷酸果糖（FDP）平行显著降低。在包括糖尿病酮症酸中毒和尿毒症酸中毒在内的酸中毒中，2,3-DPG的下降也与FDP的显著降低有关。另一方面，在呼吸性碱中毒时，糖酵解中间产物向相反方向转移，在PFK步骤出现正向交叉，与2,3-DPG升高有关。这些数据表明红细胞中2,3-DPG水平与PFK活性密切相关。至少在酸中毒和碱中毒中，2,3-DPG水平的改变很可能由主要通过变构机制引起的PFK活性变化来解释。此外，对世界上报道的12例肌肉和红细胞遗传性PFK缺乏症病例进行了综述并简要讨论。
