[Diphosphoglyceromutase deficiency: new cases associated with erythrocytosis].

摘要: New cases of diphosphoglyceromutase (DPGM) have been detected, associated with erythrocytosis in two unrelated families. The deficiency appears to be inherited as an autosomal dominant trait. Diphosphoglycerate phosphatase activity paralleled DPGM all the subjects. Three latter displayed complete about 0.4% normal 2,3-diphosphoglycerate (2,3 DPG) level. other four showed partial (about 50% mean) a similar decrease 2,3-DPG P50 values are agreement red cell concentrations. Il deficient subjects ATP level was elevated and pattern glycolytic intermediates disturbed, increase fructose 1,6-diphosphate, triose-phosphates, 3-phosphoglycerate, glucose reduced or levels glucose-6-phosphate fructose-6-phosphate.