Molecular alterations in congenital erythrocyte pyruvate kinase deficiencies.
The molecular heterogeneity of congenital pyruvate kinase deficiencies becomes apparent from the results of immunological studies. In one case, a quantitative defect is plausible; in the second case, the most likely hypothesis is a molecular alteration of the binding site for the activator, with preservation of the antigenic specificity; in the third case an abnormal protein, extremely unstable and devoid of antigenic reactivity, carries catalytic activity. In no case can any cross-reacting material be detected.
D000745:Anemia, Hemolytic, Congenital / Q000097:blood* / Q000276:immunology; D000937:Antigen-Antibody Reactions; D003429:Cross Reactions; D004591:Electrophoresis, Polyacrylamide Gel; D004912:Erythrocytes / Q000201:enzymology*; D006801:Humans; D007700:Kinetics; D011770:Pyruvate Kinase / Q000097:blood / Q000172:deficiency* / Q000378:metabolism
D011770:Pyruvate Kinase