Search for a relationship between molecular anomalies of the mutant erythrocyte pyruvate kinase variants and their pathological expression |
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| Authors: | Axel Kahn Joelle Marie Juan Luis Vives-Corrons Pierre Maigret Albert Najman |
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| Affiliation: | (1) Institut de Pathologie Moléculaire, INSERM U 129, CHU Cochin, F-75674 Paris Cedex 14, France;(2) Post-graduate Haematological School, Hospital Clinio Y Provincial, Barcelona II, Spain;(3) Centre d'Hémobiologie Périnatale, Hôpital Saint Antoine, F-75571 Paris Cedex 2, France;(4) Service des Maladies du Sang, Hôpital Saint Antoine, F-75571 Paris Cedex 2, France |
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| Abstract: | Summary Anomalies of the mutant pyruvate kinase variants and clinical symptoms have been compared in 22 unrelated patients with congenital red cell pyruvate kinase deficiency. This study suggests that some characteristics of the mutant enzymes could play a role in the intensity of haemolysis, namely residual activity, affinity for the substrate phosphoenolpyruvate and for the allosteric activator fructose 1,6 diphosphate and inhibition by ATP. |
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