A screening method for liver glycogen diseases

Abstract

Blood lactate levels were followed during oral hexose tolerance tests in 18 patients with different types of liver glycogenosis. 5 patients with glucose-6-phosphatase deficiency were given a glucose tolerance test, 5 patients with a deficiency of the debranching enzyme system, and 8 patients with a deficiency of the phosphorylase system were given glucose, fructose, and galactose tolerance tests. All patients were also given a glucagon tolerance test, with estimation of blood glucose levels. Using these tests a screening procedure for the three commonest types of liver glycogen disease has been developed.