Liver glycogen disease (von Gierke's disease).

Abstract

Liver glycogen disease (von Gierke's disease) is a rare and incompletely understood disorder of childhood, characterized by high concentration of glycogen in the liver and by inadequate release of glucose from this organ into the circulation. Major clinical manifestations include hepatomegaly; fasting hypoglycemia, acidosis, and ketosis; delayed growth and sexual development; and increased morbidity from infections. Some affected children have a bleeding diathesis, manifested principally by epistaxis, which may be sufficiently frequent and severe to cause hypochromic anemia. Hyperlipemia and accumulation of fat in the liver are very common, and the concentration of fat in the liver frequently exceeds that of glycogen. Histologic study of autopsy or biopsy specimens of liver reveals essentially normal architecture in almost all cases, but hepatic cells contain excessive amounts of glycogen and usually, fat. In some patients, glycogen accumulation appears to be limited to the liver; in others, tissues such as kidney, skeletal muscle,