Comparative Studies on LDH Deficiency and PGK Deficiency

概要

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A case of lactate dehyrogenase (LDH) deficiency and a case of phosphoglycerate kinase (PGK) deficiency have been comparatively studied. The propositus with LDH deficiency is a 64-year-old male with mild diabetes, not anemic and suffering from neither reticulocytosis nor hyperbilirubinemia. It is shown that the propositus has no obvious evidence of hemolysis. On the other hand, the propositus of PGK deficiency is a 6-year-old male with mild mental retardation, which suffers from anemia and reticulocytosis or hyperbilirubinemia. Although hematologic findings of these cases are different each other, their biochemical data are similar in some respects. It is of special interest that the erythrocyte fructose-1, 6-diphosphate (FDP), dihydroxyacetone phosphate (DHAP) as well as glyceraldehyde 3-phosphate (GA3P) concentrations in both cases are found to be markedly increased. However, the red cell concentration of 2, 3-diphosphoglycerate (2, 3 DPG) is elevated and ATP level is clearly decreased in PGK deficiency, whereas ATP and 2, 3-DPG level are normal in LDH deficiency. Red cell phospholipids compositions from these cases are normal. Although the precise mechanism of hemolysis remains to be defined, these results suggest that the decreased amount of ATP and accumulation of 2, 3-DPG might lead to a symtomatic hemolytic anemia.
Japan Society of Clinical Chemistryの論文