Skip to main content
SpringerLink
Log in

Type VI glycogenosis: identification of subgroups

  • Chapter
Inherited Disorders of Carbohydrate Metabolism

Abstract

In 1959, Hers1 reported the results of biochemical analysis of the livers of three patients, one girl and two boys, suffering from hepatomegaly. The livers of these patients were characterized by low activity of phosphorylase, normal activity of glucose-6-phosphatase and amylo-l,6-glucosidase and an excess of glycogen. The deficiency in phosphorylase was not complete and it could not be decided if the primary defect was due to phosphorylase or phosphorylase kinase. It was noted, however, that phosphorylase could not be activated by incubation in the presence of ATP and magnesium. Stetten and Stetten2 have classified this group of patients as Type VI glycogenosis, sometimes also called ‘Hers disease’.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 39.99
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 54.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. H. G. Hers, (1959). Etude enzymatique sur fragments hepatiques. Applications a la classification des glycogenoses. Rev. Int. Hepat., 9, 35

    PubMed  CAS  Google Scholar 

  2. D. W. Stetten Jr, and M. R. Stetten, (1960). Glycogen metabolism. Physiol. Rev., 40, 505

    PubMed  CAS  Google Scholar 

  3. W. Stalmans and H. G. Hers, (1975). The stimulation of liver phosphorylaseb by AMP, fluoride and sulfate. A technical note on the specific determination of the a and b forms of liver glycogen phosphorylase. Eur. J. Biochem., 54, 341

    Article  PubMed  CAS  Google Scholar 

  4. B. Lederer and W. Stalmans, (1976). Human liver glycogen phosphorylase. Kinetic properties and assay in biopsy specimens. Biochem. J., 159, 689

    PubMed  CAS  Google Scholar 

  5. B. Illingworth and D. H. Brown, (1964). Glycogen storage diseases, types III, IV and VI. In W. J. Whelan and M. P. Cameron (eds). Ciba Foundation Symposium: Control of Glycogen Metabolism, pp. 336–353 (Elsevier Publishing Co. Amsterdam)

    Google Scholar 

  6. H. G. Hers and F. van Hoof, (1968). Glycogen storage disease: Type VI glycogenosis. In F. Dickens, P. J. Randle and W. J. Whelan (eds). Carbo hydrate Metabolism and its Disorders. 2, pp. 166–168 (Academic Press Inc. New York)

    Google Scholar 

  7. 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 

  8. F. Huijing, and J. Fernandes, (1969). X-chromosomal inheritance of liver glycogenosis with phosphorylase kinase deficiency. Am. J. Hum. Genet., 21, 275

    PubMed  CAS  Google Scholar 

  9. 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 patients with Type VI glycogen storage disease. Biochem. J., 147, 23

    PubMed  CAS  Google Scholar 

  10. W. D. Wosilait, and E. W. Sutherland, (1956). The relationship of epinephrine and glucagon to liver phosphorylase. II. Enzymatic inactivation of liver phosphorylase. J. Biol. Chem., 218, 469

    PubMed  CAS  Google Scholar 

  11. W. C. Hulsmann, T. L. Oei, and S. Creveld, (1961). Phosphorylase activity in leucocytes from patients with glycogen storage disease. Lancet, 2, 581

    Google Scholar 

  12. H. E. Williams, and J. B. Field, (1961). Low leucocyte phosphorylase in hepatic phosphorylase deficient glycogen storage disease. J. Clin. Invest., 40, 1841

    Article  PubMed  CAS  Google Scholar 

  13. F. Huijing, (1967). Phosphorylase kinase in leucocytes of normal subjects and of patients with glycogen storage disease. Biochim. Biophys. Acta, 148, 601

    CAS  Google Scholar 

  14. F. Huijing, (1970a). Glycogen storage disease Type VIa low phosphorylase kinase activity caused by a low enzyme-substrate affinity. Biochim. Biophys. Acta, 206, 199

    CAS  Google Scholar 

  15. F. Huijing, (1970b). Phosphorylase kinase deficiency. Biochem. Genet. 4 (Suppl. 1), 187

    Article  CAS  Google Scholar 

  16. J. F. Koster, J. Fernandes, R. G. Slee, Th. J. C. van Berkel, and W. C. Hulsmann, (1973). Hepatic phosphorylase deficiency: a biochemical study. Biochem. Biophys. Res. Commun. 53, 282

    Article  PubMed  CAS  Google Scholar 

  17. B. R. Migeon, and F. Huijing, (1974). Glycogen storage disease associated with phosphorylase kinase deficiency: evidence of inactivation. Am. J. Hum. Genet., 26, 360

    PubMed  CAS  Google Scholar 

  18. B. Lederer, (1977). Etude biochimique de laglycogenose type VI. These de doctorate en Sciences. Universite Catholique de Louvain, 112 p.

    Google Scholar 

  19. B. Lederer, Th. de Barsy, J. G. Leroy, and H. G. Hers, (1974). Glycogen phosphorylase and its converter enzymes in cultured human fibroblasts. Hoppe-Seylers Z. Physiol. Chem., 355, 55

    Google Scholar 

  20. M. Lamy, R. Dubois, A. Rossier, J. Frezal, H. Loeb, and G. Blancher, (1960). La glycogenose par deficience en phosphorylase hepatique. Arch. Fr. Pediatr., 17, 14

    PubMed  CAS  Google Scholar 

  21. J. Fernandes, J. F. Koster, W. F. A. Grose, and N. Sorgedrager, (1974). Hepatic phosphorylase deficiency. Its differentiation for other hepatic glycogenoses. Arch. Dis. Child, 49, 186

    Article  PubMed  CAS  Google Scholar 

  22. F. Huijing, (1975). Glycogen metabolism and glycogen storage disease. Physiol. Rev., 55, 609

    PubMed  CAS  Google Scholar 

  23. J. Fernandes, and N. A. Pikaar, (1972). Ketosis in hepatic glycogenosis. Arch. Dis. Child., 47,41

    Article  PubMed  CAS  Google Scholar 

  24. 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 

  25. G. Hug, G. Chuck, L. Walling, and W. K. Schubert, (1974). Liver phosphorylase deficiency in glycogenosis type VI: Documentation by biochemical analysis of hepatic biopsy specimens. J. Lab. Clin. Med., 84, 26

    PubMed  CAS  Google Scholar 

  26. W. C. De Bruijn, J. Fernandes, J. Hubert, and J. F. Koster, (1975). Liver glycogenosis. A histochemical and ultrastructural study. Pathol. Eur., 10, 3

    PubMed  Google Scholar 

  27. G. I. Drummond, D. F. Hardwick, and S. Israels, (1970). Liver glycogen phosphorylase deficiency. Canad. Med. Assoc. J., 102, 740

    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: a survey of enzymes in phosphorylase activating system. Biochem. Biophys. Res. Commun., 53, 833

    Article  Google Scholar 

  29. R. N. Schimke, R. M. Zakheim, R. C. Corder, and G. Hug, (1973). Glycogen storage disease type IX: Benign glycogenosis of liver and hepatic phosphorylase kinase deficiency. J. Pediatr., 83, 1031

    Article  PubMed  CAS  Google Scholar 

  30. van den Berghe, G. (1974). Personnal communication

    Google Scholar 

  31. M. Lyon, (1961). Gene action in X-chromosome of the mouse (Mus musculus, L). Nature, 190, 372

    Article  PubMed  CAS  Google Scholar 

  32. D. Lonsdale, and G. Hug, (1976a). D-thyroxin induces phosphorylase kinase activity and normalizes glycogen concentration in the liver of a child with hepatic phosphorylase kinase deficient glycogenosis. J. Cell Biol., 70, 157a

    Article  Google Scholar 

  33. D. Lonsdale, and G. Hug, (1976b). Normalization of hepatic phosphorylase kinase activity and glycogen concentration in glycogen storage disease type IX (GdD IX) during treatment with sodium dextrothyroxin. Pediatr. Res., 10, 368

    Google Scholar 

Download references

Authors
  1. Th. de Barsy
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. B. Lederer
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

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

Rights and permissions

Reprints and permissions

Copyright information

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

About this chapter

Cite this chapter

de Barsy, T., Lederer, B. (1980). Type VI glycogenosis: identification of subgroups. 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_21

Download citation

  • DOI: https://doi.org/10.1007/978-94-009-9215-3_21

  • Publisher Name: Springer, Dordrecht

  • Print ISBN: 978-94-009-9217-7

  • Online ISBN: 978-94-009-9215-3

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics

Search

Navigation