Abstract INTRODUCTION Glycogen-storage disease is a congenital defect of carbohydrate metabolism characterized by deficient glycolysis and associated glycogen accumulation in various organs, particularly the liver. Secondary manifestations relate to the primary site of involvement. When the defect is principally in the liver, there is a propensity for hypoglycemia and exaggerated lipogenesis with secondary ketosis.The hepatic form of the disease, the first described,* is severest when manifest in the neonatal period.† Various other clinical types of the syndrome, not to be considered in this publication, have been described.‡Glycogen-storage disease appears to be familial, and the specific enzymatic defect or anomaly is presumably inherited as a simple recessive trait.§ This defect would appear to involve chiefly glucose-6-phosphatase. Substantial support for this thesis exists in the observations of Thannhauser and co-workers11 and Cori and associates,‖ who demonstrated low or absent glucose-6-phosphatase activity in liver preparations from several cases of classical von References 1. van Creveld, S.: Peculiar Disturbance of Carbohydrate Metabolism in Childhood , Nederl. Maandschr. Geneesk. 15:349-359, 1928. 2. von Gierke, E.: Hepato-Nephromegalia glykogenica, (Glykogenspeicherkrankheit der Leber und Nieren) , Beitr. path. Anat. 82:497-513 ( (Sept. 20) ) 1929. 3. Mason, H. H., and Andersen, D. H.: Glycogen Disease , Am. J. Dis. Child . 61:795-825 ( (April) ) 1941. 4. Abramson, H., and Kurtz, L. D.: Familial Glycogen Disease: Report of Four Fatal Cases of Hepatic Form of Disease in Siblings of One Family , Am. J. Dis. Child . 72:510-520 ( (Nov.) ) 1946.Crossref 5. Schulman, J. L., and Saturen, P.: Glycogen Storage Disease of the Liver: I. Clinical Studies During the Early Neonatal Period , Pediatrics 14: 632-645 ( (Dec.) ) 1954. 6. di Sant' Agnese, P. A.; Andersen, D. H.; Mason, H. H., and Bauman, W. A.: Glycogen Storage Diseases of the Heart: I. Report of 2 Cases in Siblings with Chemical and Pathologic Studies , Pediatrics 6:402-424 ( (Sept.) ) 1950. 7. di Sant' Agnese, P. A.; Andersen, D. H., and Mason, H. H. Glycogen Storage Disease of the Heart: II. Critical Review of the Literature , Pediatrics 6:607-623 ( (Oct.) ) 1950. 8. Childs, A. W.; Crose, R. F., and Henderson, P. H.: Glycogen Disease of the Heart: Report of 2 Cases Occurring in Siblings , Pediatrics 10:208-216 ( (Aug.) ) 1952. 9. Andersen, D. H.: Studies on Glycogen Disease with Report of a Case in Which Glycogen Was Abnormal , in Najjar, V., Editor: Carbohydrate Metabolism: A Symposium on the Clinical and Biochemical Aspects of Carbohydrate Utilization in Health and Disease , Baltimore, Johns Hopkins Press, 1952, pp. 28-42. 10. Clement, D. H., and Godman, G. C.: Glygogen Disease Resembling Mongolism, Cretinism, and Amyotonia Congenita: Case Report and Review of Literature , J. Pediat. 36:11-30 ( (Jan.) ) 1950.Crossref 11. Thannhauser, S. J.: Sorkin, S. Z., and Boncoddo, N. F.: The Amylolytic and Phosphatase Activity of Liver Tissue in von Gierke's Disease , J. Clin. Invest. 19:681-683 ( (July) ) 1940.Crossref 12. Cori, G. T., and Cori, C. F.: Glucose-6-Phosphatase of the Liver in Glycogen Storage Disease , J. Biol. Chem. 199:661-667 ( (Dec.) ) 1952. 13. Cori, G. T., and Schulman, J. L.: Glycogen Storage Disease of the Liver: II. Enzymic Studies , Pediatrics 14:646-650 ( (Dec.) ) 1954. 14. Hers, H. G., and de Duve, C.: Le Systéme hexose-phosphatasique: II. Répartition de l'activité glucose-6-phosphatasique dans les tissus , Bull. Soc. chim. biol. 32:20-29, 1950. 15. Illingworth, B., and Cori, G. T.: Structure of Glycogens and Amylopectins: III. Normal and Abnormal Human Glycogen , J. Biol. Chem. 199: 653-660 ( (Dec.) ) 1952. 16. Bridge, E. M., and Holt, L. E., Jr.: Glycogen Storage Disease: Observations on the Pathologic Physiology of 2 Cases of the Hepatic Form of the Disease , J. Pediat. 27:299-315 ( (Oct.) ) 1945.Crossref 17. Ulstrom, R. A.; Ziegler, M. R.; Doeden, D., and McQuarrie, I.: Metabolic and Clinical Effects of Corticotropin (ACTH) on Essential Glycogenosis (von Gierke's Disease) , Metabolism 1:291-299 ( (July) ) 1952. 18. Glycogen Storage Disease, Clinical Conference on Metabolic Problems , Metabolism 3:173-183 ( (March) ) 1954. 19. Nelson, N.: A Photometric Adaptation of the Somogyi Method for the Determination of Glucose , J. Biol. Chem. 153:375-380 ( (May) ) 1944. 20. Althausen, T. L.; Lockhart, J. C., and Soley, M. H.: A New Diagnostic Test (Galactose) for Thyroid Disease , Am. J. M. Sc. 199:342-351 ( (March) ) 1940.Crossref 21. Wagner, R.: Studies on Glycogen Storage Disease: Phosphorylated Intermediates in the Peripheral Blood , A. M. A. Am. J. Dis. Child . 90: 580-581 ( (Nov.) ) 1955. 22. Sutherland, E. W.: Factors Affecting Liver and Muscle Phosphorylase , in Najjar, V., Editor: Carbohydrate Metabolism: A Symposium on the Clinical and Biochemical Aspects of Carbohydrate Utilization in Health and Disease , Baltimore, Johns Hopkins Press, 1952, pp. 14-27. 23. de Duve, C.: Glucagon: The Hyperglycæmic Glycogenolytic Factor of the Pancreas . Lancet 2:99-104 ( (July 18) ) 1953.Crossref 24. Sutherland, E. W., and Cori, C. F.: Effect of Hyperglycemic-Glycogenolytic Factor and Epinephrine on Liver Phosphorylase , J. Biol. Chem. 188:531-543 ( (Feb.) ) 1951. 25. Carlson, M. J., and Koch, R.: Clinical Studies with Glucagon in Children , J. Pediat. 47:161-170 ( (Aug.) ) 1955.Crossref 26. Root, M. A.: Effect of Chronic Administration of Glucagon to Rats and Rabbits , Proc. Soc. Exper. Biol. & Med. 87:108-110 ( (Oct.) ) 1954. 27. Gutman, A. B., and Yu, T. F.: A Further Consideration of the Effects of Beryllium Salts on in Vitro Calcification of Cartilage, in Conference on Metabolic Interrelations, Transactions of the 3d Conference. Jan. 8-9, 1951, New York, Josiah Macy, Jr. Foundation, 1951, pp. 90-104. 28. Hiatt, H. H., and Shorr, E.: Inhibition of Endochondral Calcification in Vitro by Beryllium and 1-Histidine, in Conference on Metabolic Interrelations, Transactions of the 3d Conference. Jan. 8-9, 1951, New York, Josiah Macy, Jr., Foundation, 1951, pp. 105-119. 29. Russell, J. A.: Hormonal Control of the Storage of Glycogen , in Wolstenholme, G. E. W., Editor: Ciba Foundation Colloquoia on Endocrinology: Vol. VI Hormonal Factors in Carbohydrate Metabolism , Boston, Little, Brown & Company, 1953, pp. 193-210. 30. Fisher, D. A.; Hammond, G. D., and Pickering, D. E.: The Hypothyroid Infant and Child: Therapy with Sodium 1-Thyroxine , A. M. A. Am. J. Dis. Child . 90:6-21 ( (July) ) 1955.
A.M.A. Journal of Diseases of Children – American Medical Association
Published: Feb 1, 1956
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