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Recent advances and problems in the glycogen storage diseases

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Inherited Disorders of Carbohydrate Metabolism

Abstract

The first description of a glycogen storage disease is attributable to von Gierke in 19291. Since this time our knowledge has advanced quickly and these diseases now form an area of inborn errors of metabolism in which the basic enzyme defects are understood (Table 15.1) and the clinical symptoms and the differential diagnosis based on simple tests and biopsy examination, are well documented and clearly defined. Several recent reviews have been published2–4 but there has probably been none better used than the early one by Hers5, who has contributed so much to our understanding of this group of diseases.

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References

  1. E. von Gierke, (1929). Hepato-nephromegalis-glykogenica (glykogen-speicherkrankheit der Riber und nieren). Beitr. pathol. Anat., 82, 497

    Google Scholar 

  2. B. E. Ryman, (1974). The glycogen storage diseases. J. clin. Pathol., 27,Suppl. (Roy. Coll. Path.), 8, 106

    CAS  Google Scholar 

  3. B. E. Ryman, (1976). The glycogen storage diseases. In J. H. Wilkinson (ed.). The Principles and Practice of Diagnostic Enzymology, pp. 503–517 (Edward Arnold London)

    Google Scholar 

  4. F. Huijing, (1975). Glycogen metabolism and glycogen-storage diseases. Physiol. Rev., 55, 609

    PubMed  CAS  Google Scholar 

  5. H. G. Hers, (1964). Glycogen storage disease. In R. Levine and R. Luft (eds). Advances in Metabolic Regulation. Vol. 1, pp. 1–44 (Academic Press New York)

    Google Scholar 

  6. H. G. Hers and F. van Hoof, (1966). Enzymes of glycogen degradation in biopsy material. In E. F. Neufeld and V. Ginsberg (eds). Methods in Enzymology. Vol. VIII, pp. 525–5

    Google Scholar 

  7. F. van Hoof, J. Libert, G. Aubert-Tulkens and M. V. Serra, (1976). The assay of lacrymal enzymes and the ultra-structural analysis of conjunctivalbiopsies: New Techniques for the study of inborn lysosomal diseases. Metab. Ophthalmol., 1, 165

    Google Scholar 

  8. A. Fujimoto, A. L. Fluharty, R. L. Stevens, H. Kihara and M. G. Wilson, (1976). Two alpha-glucosidases in cultured amniotic fluid cells and their differentiation in the prenatal diagnosis of Pompe’s disease. Clin. Chim. Acta., 68, 177

    Article  PubMed  CAS  Google Scholar 

  9. F. Huijing and J. Fernandes 1969. X chromosomal inheritance of liver glycogesis with phosphorylase kinase-deficiency. Am. J. Hum. Genet. 21 27

    PubMed  CAS  Google Scholar 

  10. B. Lederer, F. van Hoof, G. van den Berghe and H. G. Hers, (1975). Glycogen phosphorylase and its converter enzymes in haemolysates of normal human subjects and of patients with Type VI glycogen storage disease. Biochem. J., 147, 23

    PubMed  CAS  Google Scholar 

  11. L. A. Chui and T. L. Munsat, (1976). Dominant inheritance of McArdle syndrome. Arch. Neurol., 33, 636

    PubMed  CAS  Google Scholar 

  12. T. E. Stacey, A. Macnab and L. B. Strang, (1979). Recent work on treatment of Type I glycogen storage disease, ibid.

    Google Scholar 

  13. D. A. Tyrrell, B. E. Ryman, B. R. Keeton and V. Dubowitz, (1976). Use of liposomes in treating Type II glycogenosis. Br. Med. J., 88

    Google Scholar 

  14. R. A. Chalmers, B. E. Ryman and R. W. E. Watts, (1978). Studies on a patient with in vivo evidence of Type I glycogenosis and normal enzyme activities in vitro. Acta. Paediatr. Scand., 67, 201

    Article  PubMed  CAS  Google Scholar 

  15. O. S. Nilsson, W. J. Arion, J. W. DePierre, G. Dallner and L. Ernster, (1978). Evidence for the involvement of a glucose-6-phosphate carrier in microsomal glucose-6-phosphatase activity. Eur. J. Biochem., 82,627

    Article  PubMed  CAS  Google Scholar 

  16. J. H. Miller, G. F. Gates, B. H. Landing, M. D. Kogut and T. F. Roe, (1978). Scintigraphic abnormalities in glycogen storage disease. J. Nucl. Med. Allied Sci., 19, 354

    CAS  Google Scholar 

  17. R. Geddes and G. C. Stratton, (1977). The influence of lysosomes on glycogen metabolism. Biochem. J., 163, 193

    PubMed  CAS  Google Scholar 

  18. J. F. Koster, R. G. Slee, J. M. van der Klei-Van Moorsel, P. J. G. M. Rietra and C. J. Lucas, (1976). Physico-chemical and immunological properties of acid α-glucosidase from various human tissues in relation to glycogenosis Type II (Pompe’s disease). Clin. Chim. Acta., 68, 49

    Article  PubMed  CAS  Google Scholar 

  19. K. Soyama, E. Ono, N. Shimada, K. Tanaka and T. Kusunoki, (1977). Urinary α-glucosidase analysis for the detection of the adult form of Pompe’s disease. Clin. Chim. Acta, 77, 61

    Article  PubMed  CAS  Google Scholar 

  20. G. A. Bannayan, W. J. Dean and R. R. Howell, (1976). Type IV glycogen-storage disease. Light-microscopic, electron-microscopic and enzymatic study. Am. J. Clin. Pathol., 66, 702

    PubMed  CAS  Google Scholar 

  21. R. I. Roelofs, W. K. Engel and P. B. Chauvin, (1972). Histochemical phosphorylase activity in regenerating muscle fibers from myophosphorylase-deficient patients. Science, 177

    Google Scholar 

  22. K. Sato, F. Imai, I. Hatayama and R. I. Roelofs, (1977). Characterization of glycogen phosphorylase isoenzymes present in cultured skeletal muscle from patients with McArdle’s disease. Biochem. Biophys. Res. Commun., 78, 663

    Article  PubMed  CAS  Google Scholar 

  23. J. Nolte and P. Schollmeyer, (1973). Metabolic adaptation in muscle of phosphorylase deficiency (McArdle’s disease)? Klin. Wochenschr., 51, 250

    Article  PubMed  CAS  Google Scholar 

  24. G. Hug J. C. Garancis W. K. Schubert and S. Kaplan 1966. Glycogen storage disease Types II III VIII and IX. Am. J. Dis. Child. 3 45

    Google Scholar 

  25. M. Ludwig, S. Wolfson and O. Rennart, (1972). Glycogen storage disease type VIII. Arch. Dis. Child., 47, 830

    Article  PubMed  CAS  Google Scholar 

  26. G. Hug, W. K. Schubert and G. Chuck, (1966). Phosphorylase kinase of the liver: deficiency in a girl with increased hepatic glycogen. Science, 153, 1534

    Article  PubMed  CAS  Google Scholar 

  27. G. Hug, W. K. Schubert and G. Chuck, (1969). Deficient activity of dephosphophosphorylase kinase and accumulation of glycogen in the liver. J. Clin. Invest., 48, 704

    Article  PubMed  CAS  Google Scholar 

  28. Y. Morishita, K. Nishiyama, H. Yamamura, S. Kodama, H. Negishi, M. Mat-suo, T. Matsuo and Y. Nishizuka, (1973). Glycogen phosphorylase kinase deficiency. Biochem. Biophys. Res. Commun., 54, 833

    Article  PubMed  CAS  Google Scholar 

  29. G. Hug, M. R. Sper and W. K. Schubert, (1973). Adult versus infantile glycogenosis in type II. Pediatr. Res., 7, 389

    Google Scholar 

  30. G. Hug, W. K. Schubert and G. Chuck, (197). Loss of cyclic 3′5″-AMP dependent kinase and reduction of phosphorylase kinase in skeletal muscle of a girl with deactivated phosphorylase and glycogenosis of liver and muscle. Biochem. Biophys. Res. Commun., 40, 982

    Article  Google Scholar 

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Authors
  1. Brenda E. Ryman
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Editors and Affiliations

  1. Bristol Royal Hospital for Sick Children, Bristol, UK

    D. Burman

  2. Department of Clinical Chemistry, Southmead Hospital, Bristol, UK

    J. B. Holton

  3. Clinical Chemistry Department, Bristol Maternity Hospital, Bristol, UK

    C. A. Pennock

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© 1980 The Society for the Study of Inborn Errors of Metabolism

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Ryman, B.E. (1980). Recent advances and problems in the glycogen storage diseases. In: Burman, D., Holton, J.B., Pennock, C.A. (eds) Inherited Disorders of Carbohydrate Metabolism. Springer, Dordrecht. https://doi.org/10.1007/978-94-009-9215-3_17

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  • DOI: https://doi.org/10.1007/978-94-009-9215-3_17

  • Publisher Name: Springer, Dordrecht

  • Print ISBN: 978-94-009-9217-7

  • Online ISBN: 978-94-009-9215-3

  • eBook Packages: Springer Book Archive

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