Biochemical and clinical studies on 4 cases of hepatic glycogen storage disease

Abstract

This report presented 4 cases of glycogen storage diseases. To investigate these cases, the galactose tolerance test, epinephrine test and glucagon double test were performed. Biochemical and enzymological procedures were also employed to tissue samples. Activities of twenty two glycolytic enzymes were determined. Total liver phosphorylase activity was measured by using dephosphophosphorylase kinase. One showed the deficiency of glucose-6-phosphatase (type I, von Gierke). Two showed the deficiency of amylo-1,6-glucosidase (type III, Cori) with the concomitant decrease in glucose-6-phosphatase activity. The last one with hypogonadism demonstrated no glycolytic enzyme defect. In one of type III, hyperglycemic response was demonstrated in each of postprandial epinephrine and glucagon tests in spite of the very low value of glucose-6-phosphatase activity. It was emphasized that differential diagnosis of type of glycogen storage diseases had to be done not only on the results of enzyme assay but also on findings of repeated loading tests.