FAMILIAL GLYCOGEN DISEASE

Abstract

IN 1928, van Creveld¹ described a peculiar disturbance of carbohydrate metabolism in a boy who showed enlargement of the liver shortly after birth. Van Creveld expressed the opinion that he was probably dealing with a condition of excess storage of glycogen in the liver, perhaps also in the skeletal muscles, and that this glycogen could be mobilized only with considerable difficulty. Von Gierke,² in 1929, then described cases of hypertrophy of the liver and kidneys caused by excess accumulations of glycogen. The storage was not demonstrated clinically, but was found at postmortem examination. The name "glycogen storage disease" was given to the condition. Chemical studies in these cases of von Gierke were carried out by Schönheimer.³ Since the initial descriptions, many studies on the disorder have appeared in the literature, among which may be cited those by van Creveld,⁴ Mason and Andersen⁵ and Bridge and