Glycogen Disease Research Articles

VON GIERKE'S DISEASE (GLYCOGEN DISEASE OF HEPATOMEGALIC TYPE)

In 1929 von Gierke 1 reported his first case and described the glycogen disease bearing his name. Snapper and van Creveld 2 had reported an extensive clinical study of a case the year before, and abnormal accumulations of glycogen had been recognized post mortem in livers previously. Glycogen disease, as the term was used by van Creveld 3 in his excellent review of the syndrome in 1939 and by others, has come to include, as pointed out by Mason and Andersen 4 recently, a variety of clinical and pathologic pictures. In general there is a disorder of carbohydrate metabolism beginning at a very early age and characterized by storage of glycogen in abnormally large quantities in various organs, especially the liver, the kidneys and the heart. The causes may not necessarily be similar. Mason and Andersen 4 made a tentative classification of the forms of the disease as described in

Blood Lactic Acid in Liver Glycogen Disease

An Increase in the amount of circulating lactic acid is generally attributed to anoxia. This is the cause of the high values obtained during muscular work, in cardiac decompensation, anemia, pneumonia, and shock. The concentration of lactic acid in the blood can, however, be raised above the normal fasting level by the injection of epinephrine. Cori has demonstrated that in this case the lactic acid comes largely from the breakdown of muscle glycogen. This phenomenon is apparently not associated with anoxia. We have recently had the opportunity to observe 2 infants with a singular disease, in which the high blood lactic acid would seem to be due to some other mechanism than that postulated. The disease in question, commonly known as hepatic glycogen disease or von Gierke's disease, is characterized by a defect in liver metabolism, in consequence of which the liver accumulates abnormally large stores of glycogen which it is unable to transform into glucose and excrete into the blood as a normal liver does during hypoglycemia. The patients are female infants; one 6 months, the other 61/2 months old. Both have very large livers. Neither shows any rise in blood sugar after the injection of epinephrine. Both tend to have very low blood sugar if not fed more frequently than a normal infant. Both have had convulsions due to hypoglycemia. Simultaneous determinations of blood sugar and lactic acid have been made 110 times. An analysis of the correlation of these individual determinations shows no consistent relation between the height of the blood sugar and that of the lactic acid. When, however, these infants are fed soy bean mixture and corn syrup at the usual 4-hourly intervals and also given 30 to 50 cc of a 10% glucose solution every hour between feedings, the blood sugar stays at normal or slightly higher levels and the lactic acid remains at between 20 and 50 mg per 100 cc (Fig. 1).

Two cases of glycogen disease

Two cases of glycogen disease

Effect of Vitamin C on Creatine and Creatinine Metabolism

SummaryIn a case of glycogen disease, whose tolerance to creatine is known to be minimal, saturation with vitamin C caused a marked increase in the urinary excretion of creatine and creatinine. In 4 normal children and in a child with hypothyroidism, however, no significant increase was demonstrated. This is probably due to the fact that whatever increase in creatine formation due to the ingestion of ascorbic acid is covered by the normal capacity of storage. The mechanism of the action of vitamin C on creatine metabolism is not understood.

THE INFLUENCE OF VARIOUS PHYSIOLOGICAL SUBSTANCES ON THE GLYCOGENOLYSIS OF SURVIVING RAT LIVER THE INFLUENCE OF CORTICAL HORMONE ADDED IN VITRO1

IN TWO preceding communications (1, 2) the in vitro influence of bile salts and insulin on the glycogenolysis of surviving rat liver slices has been investigated with the view of explaining the pathogenesis of Von Gierke's glycogen disease. The next hormone to be considered in this series of experiments was the cortical hormone of the adrenals. It has been demonstrated during the last decade that the adrenal cortex plays an important part in regulating carbohydrate metabolism in mammals. Whereas these studies have been made in vivo, it is the purpose of the present paper to examine the direct in vitro influence of cortical hormone on the process of hepatic glycogenolysis in surviving tissue slices. The methods applied were essentially the same as those described in the first and second communications (1, 2). Liver slices were prepared from non-fasted male rats 5 to 8 months of age with only 2 female animals in the series.

Investigations on glycogen disease

Investigations on glycogen disease