Platelet Dysfunction in Glycogen Storage Disease Type I

Abstract

Abstract A hemorrhagic tendency has been observed in patients with glycogen storage disease Type I (GSD-I). We have studied the hemostatic mechanism in six patients with GSD-I who have mild to severe bleeding tendencies. All exhibited abnormalities of platelet function (decreased prothrombin consumption, abnormal aggregation reactions, prolonged bleeding time, and low platelet adhesiveness). The degree of dysfunction correlated with the patients’ general clinical condition: when patients were acidotic and severely lipemic, platelet function was strikingly impaired. Two patients received a course of continuous intravenous alimentation. As their general metabolic state approached normal, abnormal platelet function was corrected. We found normal platelets to contain no glucose-6-phosphatase. There was no consistent increase in platelet glycogen levels in patients with GSD-I. These data indicate that the bleeding disorder in GSD-I is an acquired defect rather than a primary platelet abnormality.