[Mechanisms of congenital erythrocyte enzyme deficiencies associated with hemolytic anemia].
The search for a mechanism for red cell enzyme deficiency associated with congenital hemolytic anemia, requires one to determine the kinetic and thermodynamic properties of the enzyme reaction and study the physico-chemical and immunological characteristics of the protein which supports enzyme activity. The technique of iso-electric focalisation and the use of specific anti-enzyme antibodies, is the reason for recent progress in the understanding of the mechanism of these deficiencies. Examples of application of these techniques are given in relation to glucose-6-dehydrogenase, pyruvate kinase, glucose phosphate isomerase, phosphofructokinase and phosphoglycerate kinase of deficiencies showing the multiplicity of the molecular mechanisms.
D000745:Anemia, Hemolytic, Congenital / Q000201:enzymology*; D000746:Anemia, Hemolytic, Congenital Nonspherocytic; D000936:Antigen-Antibody Complex; D004912:Erythrocytes / Q000201:enzymology*; D005954:Glucosephosphate Dehydrogenase / Q000032:analysis; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000276:immunology*; D006801:Humans; D007525:Isoelectric Focusing; D007700:Kinetics; D009154:Mutation; D010732:Phosphofructokinase-1 / Q000172:deficiency*; D010735:Phosphoglycerate Kinase / Q000172:deficiency*; D011489:Protein Denaturation; D011770:Pyruvate Kinase / Q000172:deficiency*
D000936:Antigen-Antibody Complex; D005954:Glucosephosphate Dehydrogenase; D010732:Phosphofructokinase-1; D011770:Pyruvate Kinase; D010735:Phosphoglycerate Kinase
Mécanismes des déficits enzymatiques érythrocytaires congénitaux associés à des anémies hémolytiques