A Deficient Pyruvate Kinase with an Electrophoretically Slow-Moving Component

Abstract
A deficient erythrocyte pyruvate kinase observed in a patient with congenital nonspherocytic anemia was characterized by very low activity in hemolysates, decreased thermal stability, slightly increased urea denaturation, high affinity for phosphoenolpyruvate poor fructose-1,6-diphosphate activation, normal ATP inhibition, decreased affinity for ADP, normal pH of optimal activity and presence of an abnormal slow-moving component in thin layer polyacrylamide gel electrophoresis. The patient was probably double heterozygous for 2 different deficient mutants of erythrocyte pyruvate kinase.

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