Studies of Glycogen Metabolism in Liver Glycogen Disease (von Gierke's Disease): Six Cases with Similar Metabolic Abnormalities and Responses to Glucagon.
نویسندگان
چکیده
Glycogen disease of the liver (von Gierke's disease) is a rare and incompletely understood disorder of childhood. It is characterized by defective breakdown of liver glycogen to glucose. In most cases, excessive liver glycogen deposition occurs, reaching levels as high as 14 to 17 per cent of the wet liver weight (1, 2). Major clinical manifestations include hepatomegaly; fasting hypoglycemia, acidosis and ketosis; delayed growth and development, and increased morbidity with even minor infections. The most severely affected children have usually died during infancy. Histologic studies of autopsy or biopsy specimens of liver reveal essentially normal architecture, but hepatic cells contain excessive amounts of glycogen and often, fat. The glycogen is usually normal in structure (3) and can be broken down to glucose by homogenates of normal animal or human liver (2, 4, 5). Spontaneous breakdown of glycogen during in vitro incubation of liver tissue from affected children is deficient (2, 4, 6). The currently accepted pathways of liver glycogen metabolism are summarized in Figure 1. It was formerly believed that glycogen was synthesized through the action of phosphorylase, the same enzyme that catalyzes its breakdown. However, it is now agreed that this reaction, which occurs readily in vitro, is not an important one in vivo (7), and that glycogen synthesis probably proceeds through the uridine-diphosphoglucose pathway described by Leloir and Cardini (8). Glycogen breakdown is mediated by phosphorylase
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عنوان ژورنال:
- The Journal of clinical investigation
دوره 40 2 شماره
صفحات -
تاریخ انتشار 1961