Figure 1.
Red blood cell metabolism. Glycolysis (the Embden-Meyerhof pathway) generates ATP required for cation transport and for membrane maintenance, while NADH maintains hemoglobin iron in a reduced state. The hexose monophosphate shunt generates the NADPH that is used to reduce GSH, which protects the red blood cell against oxidant stress (Figure 7); 6-phosphogluconate, after decarboxylation, can be recycled via pentose sugars to glycolysis. At the side of glycolysis is the Rapoport-Luebering cycle, which provides 2,3-isphosphoglycerate (2,3-DPG): its level is a critical determinant of the oxygen affinity of hemoglobin. G6PD deficiency is highly prevalent in many parts of the world (Figure 6); all other enzymopathies are rare to ultrarare. Among them, the order of prevalence is PK, followed by P5N, followed by GPI.