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Glykogenspeicherkrankheiten

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Kinderpathologie

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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.

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Literatur

Allgemeines

  • Harris, H.: Glycogen diseases. In The Principles of Human Biochemical Genetics, S. 160. Amsterdam: North-Holland 1970.

    Google Scholar 

  • Holtzman, N. A.: Dietary treatment of inborn errors of metabolism. Glycogen diseases. Ann. Rev. Med. 21, 344 (1970).

    Google Scholar 

  • 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).

    CAS  Google Scholar 

  • Mahnke, P.-Fr., Gantenbein, B.: Zur Häufigkeit und Problematik des Kernglykogens in der kindlichen Leber. Acta hepato-splenol. (Stuttg.) 12, 321 (1965).

    CAS  Google Scholar 

  • Öckerman, P. A.: Glycogen storage disease in Sweden. Acta paediat. scand. Suppl. 160, 1965.

    Google Scholar 

  • 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).

    Article  PubMed  CAS  Google Scholar 

  • Synthesestörungen des Glykogens Glykogen-Synthetase

    Google Scholar 

  • 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).

    Article  PubMed  CAS  Google Scholar 

  • 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).

    PubMed  CAS  Google Scholar 

  • Brancher-Enzyme

    Google Scholar 

  • Andersen, D. H.: Familial cirrhosis of the liver with storage of abnormal glycogen. Lab. Invest. 5, 11 (1956).

    PubMed  CAS  Google Scholar 

  • 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).

    Article  CAS  Google Scholar 

  • 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).

    Article  PubMed  CAS  Google Scholar 

  • Schochet, S. S. Jr., McCormick, W. F., Zellweger, H.: Type IV glycogenosis (Amylopecti-nosis). Arch. Path. 90, 354 (1970).

    PubMed  Google Scholar 

Phosphoglukomutase

  • 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).

    Article  PubMed  CAS  Google Scholar 

Phosphofruktokinase

  • Layzer, R. B., Rowland, L. P., Ranney, H. M.: Muscle phosphofructokinase deficiency. Arch. Neurol. (Chic.) 17, 512 (1967).

    CAS  Google Scholar 

  • 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 

  • 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).

    Article  PubMed  CAS  Google Scholar 

Abbaustörungen des Glykogens Leberphosphorylase

  • 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).

    Article  PubMed  CAS  Google Scholar 

  • 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).

    Article  PubMed  CAS  Google Scholar 

Alfa-1,4-Glukosidase

  • 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).

    CAS  Google Scholar 

  • 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).

    Article  PubMed  CAS  Google Scholar 

  • 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 

  • McAdams, A. J., Wilson, H. E.: The liver in generalized glycogen storage disease. Amer. J. Path. 40, 99 (1966).

    Google Scholar 

  • Nihill, M. R., Wilson, D. S., Hugh-Jones, K.: Generalized glycogenosis Type II (Pompe’s disease). Arch. Dis. Childh. 45, 122 (1970).

    Article  PubMed  CAS  Google Scholar 

  • Pompe, J. C.: Genootschap ter beuordering van natuur-geneesens heelkunde, te Amsterdam. Ned. T. Geneesk. 76, 304 (1932).

    Google Scholar 

  • Salafsky, I. S., Nadler, H. L.: Alpha-1,4-glucosidase activity in Pompe’s disease. J. Pediat. 79, 794 (1971).

    Article  PubMed  CAS  Google Scholar 

Debrancher-Enzyme

  • 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).

    PubMed  CAS  Google Scholar 

  • Waaler, P. E., Gatatun-Tjeldsto, O., Moe, P. J.: Genetic studies in glycogen storage disease type III. Acta paediat. scand. 59, 529–535 (1970).

    Article  PubMed  CAS  Google Scholar 

  • Williams, Ch., Field, J. B.: Studies in glycogen storage disease. III. Limit dextrinosis: A genetic study. J. Pediat. 72, 214 (1968).

    Article  PubMed  CAS  Google Scholar 

Muskelphosphorylase

  • 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).

    Article  PubMed  CAS  Google Scholar 

  • 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

  • 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 

  • von Gierke, E.: Hepato-nephromegalia glykogenia. Beitr. path. Anat. 82, 497 (1929).

    Google Scholar 

  • 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).

    Article  PubMed  CAS  Google Scholar 

  • 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).

    CAS  Google Scholar 

Technik

  • Byron, F. M.: Demonstration of glycogen in glycogenosis types 1, 2 and 4. J. med. Lab. Technol. 27, 43 (1970).

    PubMed  CAS  Google Scholar 

  • Czarnecki, C. M.: The effect of fixation on the chemical extraction of glycogen from rat liver. Histochem. J. 3, 163 (1971).

    Article  PubMed  CAS  Google Scholar 

  • 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 

  • 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).

    Article  PubMed  CAS  Google Scholar 

  • 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).

    Article  PubMed  CAS  Google Scholar 

  • Lynch, M. J. et al.: Medical Laboratory Technology and Clinical Pathology. 2. Aufl., S. 1090. Philadelphia: Saunders 1969 (Glykogen-Fixation).

    Google Scholar 

  • Manns, E.: The preservation and demonstration of glycogen in tissue sections. J. med. Lab. Technol. 15, 1 (1958).

    PubMed  CAS  Google Scholar 

  • Öckerman, P. A.: A technique for the enzymatic diagnosis of glycogen storage disease on very small tissue specimens. Acta paediat. scand. 57, 105 (1968).

    Article  PubMed  Google Scholar 

  • Valance-Owen, J.: The histological demonstration of glycogen in necropsy material. J. Path. Bact. 60, 325 (1948).

    Article  Google Scholar 

  • Williams, H. E., Kendig, E. M., Field, J. B.: Leukocyte debranching enzyme in glycogen storage disease. J. clin Invest. 42, 656 (1963)

    Article  PubMed  CAS  Google Scholar 

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Authors and Affiliations

  1. Institutet för pediatrisk patologi, Karolinska sjukhuset, Strockholm 60, Schweden

    Professor Biörn Ivemark M.D.

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  1. Professor Biörn Ivemark M.D.
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© 1974 Biörn Ivemark und Almqvist & Wiksell Förlag AB, Stockholm

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Ivemark, B. (1974). Glykogenspeicherkrankheiten. In: Kinderpathologie. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-65723-8_8

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  • DOI: https://doi.org/10.1007/978-3-642-65723-8_8

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-65724-5

  • Online ISBN: 978-3-642-65723-8

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