Red cell pyruvate kinase deficiency. The effect of splenectomy

Publisher Website
Google Scholar
Abstract
Two patients with erythrocyt pyruvate kinase (PK) deficiency are described. One became evident only in the 3rd decade of life, whereas the other presented early in infancy as a severe, life-threatening hemolytic process. Beth responded well to splenectomy. The clinical and biochemical variability of PK deficiency is discussed, and it is postulated that this variability is related to either differences in the molecular structure or to the rate of synthesis of the mutant enzyme. The biochemical basis for the beneficial effects of splenectomy in this disease is considered, and it is suggested that this is related to the marked fall in adenosine triphosphate levels observed on incubation of erythrocytes from these patients in the absence of glucose.

This publication has 1 reference indexed in Scilit: