Impaired platelet function in glucose-6-phosphatase deficiency

Platelet function was evaluated in 13 patients with Corl's type I, III, VI, and IX glycogen storage disease. Onlypatients with G-6-Pase deficiency demonstrated evidence of platelet dysfunction. The most prominent findings were prolonged bleeding time, reduced platelet adhesion, and defective collagen and epinephrine-induced aggregation. Nucleotide content of platelets was normal, but release of ADP was markedly impaired. These data suggest an intrinsic defect in the platelet release reaction. The reversibility of abnormal platelet function on days 10 to 12 of TPM suggests that the defect is secondary to the metabolic changes associated with G-6-Pase deficiency and occurs as the platelet is developing in the megakaryocyte rather than while circulating in the plasma.