Glykogenspeicherkrankheiten

  • Biörn Ivemark

Zusammenfassung

Störungen im Glykogenumsatz werden Glykogenspeicherkrankheiten oder Glykogenosen genannt. Man hat Enzymblokkierungen gefunden, die eine defekte Synthese oder einen mangelhaften Glykogenabbau zur Folge haben. Dabei kann die Bildung von Glykogen ausbleiben (Aglykogenose) oder Glykogen übermäßig abgelagert werden. Das angehäufte Glykogen kann normal oder abnorm sein. Deshalb werden diese Störungen neuerdings einfach Glykogenspeicherkrankheiten genannt.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Literatur

Allgemeines

  1. Harris, H.: Glycogen diseases. In The Principles of Human Biochemical Genetics, S. 160. Amsterdam: North-Holland 1970.Google Scholar
  2. Holtzman, N. A.: Dietary treatment of inborn errors of metabolism. Glycogen diseases. Ann. Rev. Med. 21, 344 (1970).Google Scholar
  3. Hug, G., Garancis, J. C., Schubert, W. K., Kaplan, S.: Glycogen storage disease types, II, III, VIII, and IX. Amer. J. Dis. Child. 111, 457 (1966 a).Google Scholar
  4. Mahnke, P.-Fr., Gantenbein, B.: Zur Häufigkeit und Problematik des Kernglykogens in der kindlichen Leber. Acta hepato-splenol. (Stuttg.) 12, 321 (1965).Google Scholar
  5. Öckerman, P. A.: Glycogen storage disease in Sweden. Acta paediat. scand. Suppl. 160, 1965.Google Scholar
  6. Pallavicini, J. Ch., Wiesman, U., Uhlendorf, W. B., di Saint’ Agnese, P. A.: Glycogen content of tissue culture fibroblasts from patients with cystic fibrosis and other heritable disorders. J. Pediat. 77, 280 (1970).PubMedCrossRefGoogle Scholar
  7. Synthesestörungen des Glykogens Glykogen-SynthetaseGoogle Scholar
  8. Lewis, G. M., Spencer-Peet, J., Stewart, K. M.: Infantile hypoglycemia due to inherited deficiency of glycogen synthetase in liver. Arch. Dis. Childh. 38, 40 (1963).PubMedCrossRefGoogle Scholar
  9. Parr, J., Teree, T. M., Larner, J.: Symptomatic hypoglycemia, visceral fatty metamorphosis and aglycogenosis in an infant lacking glycogen synthetase and Phosphorylase. Pediatrics 35, 770 (1965).PubMedGoogle Scholar
  10. Brancher-EnzymeGoogle Scholar
  11. Andersen, D. H.: Familial cirrhosis of the liver with storage of abnormal glycogen. Lab. Invest. 5, 11 (1956).PubMedGoogle Scholar
  12. Brown, B. I., Brown, D. H.: Lack of an α-1,4-glucan: α-1,4-glucan 6-glycosyl transferase in a case of Type IV glycogenosis. Proc. nat. Acad. Sci. (Wash.) 56, 725 (1966).CrossRefGoogle Scholar
  13. Howell, R. R., Kaback, M. M., Brown, B. I.: Type IV glycogen storage disease: Branching enzyme deficiency in skin fibroblasts and possible heterozygote detection. J. Pediat. 78, 638 (1971).PubMedCrossRefGoogle Scholar
  14. Schochet, S. S. Jr., McCormick, W. F., Zellweger, H.: Type IV glycogenosis (Amylopecti-nosis). Arch. Path. 90, 354 (1970).PubMedGoogle Scholar

Phosphoglukomutase

  1. Thomson, W. H. S., MacLaurin, J. C., Prineas, J. W.: Skeletal muscle glycogenosis: An investigation of two dissimilar cases. J. Neurol. Neurosurg. Psychiat. 26, 60 (1963).PubMedCrossRefGoogle Scholar

Phosphofruktokinase

  1. Layzer, R. B., Rowland, L. P., Ranney, H. M.: Muscle phosphofructokinase deficiency. Arch. Neurol. (Chic.) 17, 512 (1967).Google Scholar
  2. Tarui, S., Okuno, G., Ikura, Y., Tanaka, T., Suda, M., Nishikawa, M.: Phosphofructokinase deficiency in skeletal muscle. A new type of glycogenosis. Biochem. biophys. Res. Commun. 129, 1553 (1965).Google Scholar
  3. Tarui, S., Kono, N., Nasu, T., Nishikawa, M.: Enzymatic basis for the coexistence of myopathy and hemolytic disease in inherited muscle phosphofructokinase deficiency. Biochem. biophys. Res. Commun. 34, 77 (1969).PubMedCrossRefGoogle Scholar

Abbaustörungen des Glykogens Leberphosphorylase

  1. Hug, G., Schubert, W. K., Chuck, G.: Phosphorylase kinase of the liver: deficiency in a girl with increased hepatic glycogen. Science 153, 1534 (1966 b).PubMedCrossRefGoogle Scholar
  2. Schwartz, D., Savin, M., Drash, A., Field, J.: Studies in glycogen storage disease. IV. Leukocyte Phosphorylase in a family with type VI GSD. Metabolism. 19, 238 (1970).PubMedCrossRefGoogle Scholar

Alfa-1,4-Glukosidase

  1. Bruni, C. B., Paluello, F. M: A biochemical and ultrastructural study of liver, muscle, heart and kidney in type II glycogenosis. Virchows Arch. Abt. B 4, 196 (1970).Google Scholar
  2. Hernandez, A., Jr., Marchesi, V., Goldring, D., Kissane, J., Hartmann, Jr., A. F.: Cardiac glycogenosis. Hemodynamic, angiocardiographic, and electron microscopic findings-report of a case. J. Pediat. 68, 400 (1966).PubMedCrossRefGoogle Scholar
  3. Hudgson, P.: Type II (Pompe’s disease) skeletal muscle glycogenosis. In Some Inherited Disorders of Brain and Muscle (Hrsg. Allan, J. D. & Raine, D. N.), S. 60. Edinburgh: E. S. Livingstone 1969.Google Scholar
  4. McAdams, A. J., Wilson, H. E.: The liver in generalized glycogen storage disease. Amer. J. Path. 40, 99 (1966).Google Scholar
  5. Nihill, M. R., Wilson, D. S., Hugh-Jones, K.: Generalized glycogenosis Type II (Pompe’s disease). Arch. Dis. Childh. 45, 122 (1970).PubMedCrossRefGoogle Scholar
  6. Pompe, J. C.: Genootschap ter beuordering van natuur-geneesens heelkunde, te Amsterdam. Ned. T. Geneesk. 76, 304 (1932).Google Scholar
  7. Salafsky, I. S., Nadler, H. L.: Alpha-1,4-glucosidase activity in Pompe’s disease. J. Pediat. 79, 794 (1971).PubMedCrossRefGoogle Scholar

Debrancher-Enzyme

  1. Garancis, J. C., Panares, R. R., Good, Th. A., Kuzma, J. F.: Type III Glycogenosis. A biochemical and electron microscopic study. Lab. Invest. 22, 468 (1970).PubMedGoogle Scholar
  2. Waaler, P. E., Gatatun-Tjeldsto, O., Moe, P. J.: Genetic studies in glycogen storage disease type III. Acta paediat. scand. 59, 529–535 (1970).PubMedCrossRefGoogle Scholar
  3. Williams, Ch., Field, J. B.: Studies in glycogen storage disease. III. Limit dextrinosis: A genetic study. J. Pediat. 72, 214 (1968).PubMedCrossRefGoogle Scholar

Muskelphosphorylase

  1. Fattah, S. M., Rubulis, A., Faloon, W. M.: McArdle’s disease. Metabolic studies in a patient and review of the syndrome. Amer. J. Med. 48, 693 (1970).PubMedCrossRefGoogle Scholar
  2. McArdle, B.: Type V glycogenosis. In Some Inherited Disorders of Brain and Muscle (Hrsg. Allan, J. D. & Raine, D. N.) S. 48. Edinburgh: E. S. Livingstone 1969.Google Scholar

Glukose-6-Phosphatase

  1. Brante, G., Kaijser, K., Öckerman, P. A.: Glycogenosis type I (lack of glucose-6-phospha-tase) in four siblings. Acta paediat. Suppl. 157, (1964).Google Scholar
  2. von Gierke, E.: Hepato-nephromegalia glykogenia. Beitr. path. Anat. 82, 497 (1929).Google Scholar
  3. Kelley, W. N., Rosenbloom, F. M., Seegmiller, J. E., Howell, R. R.: Excessive production of uric acid in type I glycogen storage disease. J. Pediat. 72, 488 (1968).PubMedCrossRefGoogle Scholar
  4. Spycher, M. A., Gitzelmann, R.: Glycogenosis type I (glucose-6-phosphatase deficiency): Ultrastructural alterations of hepatocytes in a tumor bearing liver. Virchows Arch. Abt. B 8, 133 (1971).Google Scholar

Technik

  1. Byron, F. M.: Demonstration of glycogen in glycogenosis types 1, 2 and 4. J. med. Lab. Technol. 27, 43 (1970).PubMedGoogle Scholar
  2. Czarnecki, C. M.: The effect of fixation on the chemical extraction of glycogen from rat liver. Histochem. J. 3, 163 (1971).PubMedCrossRefGoogle Scholar
  3. Field, R. A.: Glycogen deposition diseases. In The Metabolic Basis of Inherited Disease (Hrsg. Stanbury, J. B. et al.) 2. Aufl., S. 165 New York: McGraw-Hill 1966.Google Scholar
  4. Howell, R. R., Kaback, M. M., Brown, B. I.: Type IV glycogen storage disease: Branching enzyme deficiency in skin fibroblasts and possible heterozygote detection. J. Pediat. 78, 638 (1971).PubMedCrossRefGoogle Scholar
  5. Lundquist, A., Öckerman, P. A.: Fine-needle aspiration biopsy of human liver for enzymatic diagnosis of glycogen storage diseases and gargoylism. Acta paediat. scand. 59, 293 (1970).PubMedCrossRefGoogle Scholar
  6. Lynch, M. J. et al.: Medical Laboratory Technology and Clinical Pathology. 2. Aufl., S. 1090. Philadelphia: Saunders 1969 (Glykogen-Fixation).Google Scholar
  7. Manns, E.: The preservation and demonstration of glycogen in tissue sections. J. med. Lab. Technol. 15, 1 (1958).PubMedGoogle Scholar
  8. Öckerman, P. A.: A technique for the enzymatic diagnosis of glycogen storage disease on very small tissue specimens. Acta paediat. scand. 57, 105 (1968).PubMedCrossRefGoogle Scholar
  9. Valance-Owen, J.: The histological demonstration of glycogen in necropsy material. J. Path. Bact. 60, 325 (1948).CrossRefGoogle Scholar
  10. Williams, H. E., Kendig, E. M., Field, J. B.: Leukocyte debranching enzyme in glycogen storage disease. J. clin Invest. 42, 656 (1963)PubMedCrossRefGoogle Scholar

Copyright information

© Biörn Ivemark und Almqvist & Wiksell Förlag AB, Stockholm 1974

Authors and Affiliations

  • Biörn Ivemark
    • 1
  1. 1.Institutet för pediatrisk patologiKarolinska sjukhusetStrockholm 60Schweden

Personalised recommendations