Journal of Inherited Metabolic Disease

, Volume 14, Issue 2, pp 269–270 | Cite as

Hepatic phosphorylase b kinase deficiency with normal enzyme activity in leukocytes and erythrocytes

  • H. D. Bakker
  • J. A. J. M. Taminiau
  • J. E. T. van den Berg
  • R. Berger
Case Report

Keywords

Public Health Enzyme Activity Internal Medicine Metabolic Disease Phosphorylase 

References

  1. Huijing, F. and Fernandes, J. X-Chromosomal inheritance of liver glycogenosis with phosphorylase kinase deficiency.Am. J. Hum. Genet. 21 (1969) 275–284Google Scholar
  2. Lederer, B., van Hoof, F., van den Berghe, G. and Hers, H.G. Glycogen phosphorylase and its converter enzymes in haemolysates of normal human subjects and of patients with type VI glycogen storage disease. A study of phosphorylase kinase deficiency.Biochem. J. 147 (1975) 23–35Google Scholar
  3. Ohtani, Y., Matsuda, J., Iwamasa, T., Tamari, H., Origuchi, Y. and Miike, T. Infantile glycogen storage myopathy in a girl with phosphorylase kinase deficiency.Neurology 32 (1982) 833–838Google Scholar

Copyright information

© SSIEM and Kluwer Academic Publishers 1991

Authors and Affiliations

  • H. D. Bakker
    • 1
  • J. A. J. M. Taminiau
    • 1
  • J. E. T. van den Berg
    • 2
  • R. Berger
    • 2
  1. 1.Emma Kinderziekenhuis, Division of PaediatricsAcademic Medical CentreAmsterdamThe Netherlands
  2. 2.University Children's Hospital ‘Het Wilhelmina Kinderziekenhuis’UtrechtThe Netherlands

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