Diagnosis of Glycogenosis using Peripheral Blood Samples

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The results of comparative enzymatic studies between tissues and peripheral blood samples from 25 patients with hepatic glycogenosis and 2 patients with generalized glycogenosis are described.<BR>The enzymatic studies included determination of glycogen contents in tissues and erythrocytes, assay of glucose-6-phosphatase activity in liver and plateletes, amylo-1, 6-glucosidase activity in liver and leucocytes, or α-1, 4-glucosidase activity in skeletal muscle and leucocytes.<BR>Twenty one patients were hepatic glycogenosis associated with deficiency of glucose-6- phosphatase, amylo-1, 6-glucosidase or hepatic phosphorylase system.(Eleven cases: type I, 6 cases: type III, 4 cases: type VI or VIII)<BR>Two patients were generalized glycogenosis associated with deficiency of α-1, 4-glucosidase. Enzyme defect could not be detected in two patients who have excessive glycogen accumulation in the liver. For diagnosis of type I, determination of liver glucose-6-phosphatase is essential, and plateletes glucose-6-phosphatase assay is not suitable.<BR>Despite the amylo-1, 6-glucosidase activity was markedly reduced in the liver tissue, normal activity was found in the leucocytes from one patient with type III. From the above results, the enzymatic diagnosis of glycogenosis using peripheral blood samples seems to have some limitation.
Japan Society of Clinical Chemistryの論文