Hereditary and acquired abnormalities in erythrocyte phosphofructokinase activity: the close association with altered 2,3-diphosphoglycerate levels.
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.
D000471:Alkalosis / Q000097:blood; D002239:Carbohydrate Metabolism, Inborn Errors / Q000378:metabolism*; D016883:Diabetic Ketoacidosis / Q000097:blood; D004163:Diphosphoglyceric Acids / Q000097:blood*; D004912:Erythrocytes / Q000378:metabolism*; D005260:Female; D006019:Glycolysis; D006801:Humans; D006863:Hydrogen-Ion Concentration; D010732:Phosphofructokinase-1 / Q000097:blood* / Q000172:deficiency
D004163:Diphosphoglyceric Acids; D010732:Phosphofructokinase-1