Three Differing Cases of Glycogen Storage

More than 30 years have elapsed since von Gierke (1929) gave the first comprehensive account of clinical and pathological studies on cases in which large deposits of glycogen could be found in the liver and kidneys. Many cases have been reported since then and differing types of glycogen storage disease have been recognized so that a group of diseases each having their characteristic abnormalities is now known (Mason and Andersen, 1941; Cori, 1954). Recent advances in our knowledge of certain aspects of carbohydrate metabolism, in particular the enzymic synthesis and degradation of glycogen, has led to the belief that the group of diseases is caused by differing defects or deficiencies of certain enzymes, these abnormalities being controlled by genes of a mendelian recessive type. The purpose of this report is to describe three cases of glycogen storage disease each of which has been the result of a consanguinous marriage. The three cases differ. Whilst it has not proved possible to perform all the desirable biochemical studies, observations on certain aspects of carbohydrate metabolism as revealed by intravenous galactose tolerance tests on the three cases are reported.