Von Gierke’s Glycogen Disease
The purpose of this report is to present two cases of von Gierke’s glycogen disease, to discuss its clinical characteristics, to review the present concept of the disease, and to digress somewhat on the mechanism of acidosis, particularly in children.
Von Gierke’s glycogen disease is apparently limited to infancy and childhood. It is chronic, often with a familial tendency, and is characterized by an excessive accumulation of glycogen in various organs of the body, especially the liver, with subsequent enlargement of the affected organs. The stored glycogen, which cannot be mobilized,1 seems to have normal chemical and physical properties and can be hydrolyzed by normal liver tissue. The liver may extend to the iliac crest, yet there is neither splenomegaly, ascites, nor jaundice. Appreciable impairment in liver function is not common. The fasting blood sugar is consistently low, usually without symptoms of hypoglycemia. Fasting acetonuria, lipemia, and hypercholesterolemia are not uncommon. Epinephrine may increase acetonuria but does not cause as great a rise in blood sugar levels as would occur normally.
The etiology and pathogenesis of the disease are not clear. It has been postulated that the fetal type of glycogen metabolism may persist into postnatal life,2 since fetal glycogen does not disappear rapidly by spontaneous glycogenolysis and cannot be readily mobilized by the administration of epinephrine.3 It has been suggested that the presence of diastatic ferment in the liver is necessary before epinephrine can release glucose from hepatic glycogen stores and that this enzyme is diminished or absent in. . .