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The natural history of liver glycogenosis due to phosphorylase kinase deficiency: A longitudinal study of 41 patients

  • Metabolic Diseases
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Abstract

We report a longitudinal study of 41 patients with liver glycogenosis due to phosphorylase kinase deficiency. In their youth, patients displayed hepatomegaly (92%), growth retardation (68%), delayed motor development (52%), hypercholesterolaemia (76%), hypertriglyceridaemia (70%), elevation of glutamate pyruvate transaminase (56%) and fasting hyperketosis (44%). With age, these clinical and biochemical abnormalities gradually disappeared and most adult patients were asymptomatic.

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Abbreviations

GOT:

glutamate oxaloacetate transaminase

GPT:

glutamate pyruvate transaminase

GSD:

glycogen storage disease

HSDS:

height standard deviation score

Pase:

phosphorylase

Pasea :

active phosphorylase a

Paseb :

inactive phosphorylase b

PK:

phosphorylase kinase

References

  1. Bashan N, Iancu TC, Lerner A, Fraser D, Potashnik R, Moses SW (1981) Glycogenosis due to liver and muscle phosphorylase kinase deficiency. Pediatr Res 15:299–303

    PubMed  Google Scholar 

  2. Baussan C, Moatti N, Odievre M, Le Monnier A (1981) Liver glycogenosis caused by a defective phosphorylase system: hemolysate analysis. Pediatrics 67:107–112

    PubMed  Google Scholar 

  3. De Bruijn WC, Fernandes JF, Huber J, Koster JF (1975) Liver glycogenosis. A biochemical and ultrastructural study. Path Eur 10:3–15

    Google Scholar 

  4. Dunger DB, Holder AT, Leonard JV (1982) Growth and endocrine changes in the hepatic glycogenoses. Eur J Pediatr 138:226–230

    Article  PubMed  Google Scholar 

  5. Dunger DB, Leonard JV, Preece MA (1984) Patterns of growth in the hepatic glycogenoses. Arch Dis Child 59:657–660

    PubMed  Google Scholar 

  6. Endres W, Shin YS, Rieth M, Ullrich K, Kollmann F, Schaub J (1984) D-Thyroxine treatment in glycogen storage disease type VIa. Pediatr Res 18:797

    Google Scholar 

  7. Fernandes J, Pikaar NA (1972) Ketosis in hepatic glycogenosis. Arch Dis Child 47:41–46

    PubMed  Google Scholar 

  8. Fernandes J, Huijing F, Van de Kamer JH (1969) A screening method for liver glycogen diseases. Arch Dis Child 44:311–317

    PubMed  Google Scholar 

  9. Fernandes J, Koster FJ, Grose WFA, Sorgedrager N (1974) Hepatic phosphorylase deficiency. Its differentiation from other hepatic glycogenoses. Arch Dis Child 49:186–191

    PubMed  Google Scholar 

  10. Fernandes J, Jansen H, Jansen TC (1979) Nocturnal gastric drip feeding in glucose-6-phosphatase deficient children. Pediatr Res 13:225–229

    PubMed  Google Scholar 

  11. Garibaldi LR, Borrone C, De Martini I, Battistini E (1978) Dextrothyroxine treatment of phosphorylase kinase deficiency glycogenosis in four boys. Helv Paediatr Acta 33:435–441

    PubMed  Google Scholar 

  12. Goji K, Morishita Y, Kodama S, Takahashi T, Matsuo T (1985) Lymphocyte phosphorylase kinase activities in the sex-linked form of liver phosphorylase kinase deficiency. Eur J Pediatr 143: 179–182

    Article  PubMed  Google Scholar 

  13. Hug G, Schubert WK, Chuck G (1966) Phosphorylase kinase of the liver: deficiency in a girl with increased hepatic glycogen. Science 153:1534–1535

    PubMed  Google Scholar 

  14. Hug G, Schubert WK, Chuck G (1969) Deficient activity of dephosphorylase kinase and accumulation of glycogen in the liver. J Clin Invest 48:704–715

    PubMed  Google Scholar 

  15. Huijing F (1967) Phosphorylase kinase in leucocytes of normal subjects and of patients with glycogen-storage disease. Biochim Biophys Acta 148:601–603

    Google Scholar 

  16. Huijing F, Fernandes J (1969) X-chromosomal inheritance of liver glycogenosis with phosphorylase kinase deficiency. Am J Hum 21:275–284

    Google Scholar 

  17. Lederer B, Van de Werve G, De Barsy Th, Hers HG (1970) The autosomal form of phosphorylase kinase deficiency in man: reduced activity of the muscle enzyme. Biochem Biophys Res Commun 92:169–174

    Article  Google Scholar 

  18. Lederer B, Van Hoof F, Van Den Berghe G, Hers HG (1975) Glycogen phosphorylase and its converter enzymes in hemolysates of normal human subjects and of patients with type VI glycogen storage disease. A study of phosphorylase kinase deficiency. Biochem J 147:23–35

    PubMed  Google Scholar 

  19. Lerner A, Iancu TC, Bashan N, Potashnik R, Moses S (1982) A new variant of glycogen storage disease Type IXc. Am J Dis Child 136:406–410

    PubMed  Google Scholar 

  20. Lonsdale D, Hug G (1976) D-Thyroxine stimulates 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 

  21. Migeon BR, Huijing F (1974) Glycogen storage disease associated with phosphorylase kinase deficiency: evidence for X inactivation. Am J Hum Genet 26:360–368

    PubMed  Google Scholar 

  22. Morishita Y, Nishyama K, Yamamura H, Kodama S, Negishi H, Matsuo M, Matsuo T, Nishizuka Y (1973) Glycogen phosphorylase kinase deficiency: a survey of enzymes in phosphorylase activating system. Biochem Biophys Res Commun 54:833–841

    Article  PubMed  Google Scholar 

  23. Peden VH (1964) Determination of individual serum “ketone bodies”, with normal values in infants and children. J Lab Clin Med 63:332–343

    PubMed  Google Scholar 

  24. Schimke RN, Zakheim RM, Corder RC, Hug G (1973) Glycogen storage disease type IX: benign glycogenosis of liver and hepatic phosphorylase kinase deficiency. J Pediatr 83:1031–1034

    PubMed  Google Scholar 

  25. Wieringen JC van (1972) Height and weight surveys in The Netherlands 1964–1966 (in Dutch) Thesis, University of Leiden, The Netherlands

    Google Scholar 

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Authors and Affiliations

  1. Department of Paediatrics, University Hospital Groningen, Oostersingel 59, 9713 EZ, Groningen, The Netherlands

    P. J. Willems, R. Berger & J. Fernandes

  2. Department of Medical Genetics, University of Antwerp-UIA, Wilrijk, Belgium

    P. J. Willems

  3. Department of Paediatrics, University Hospital Maastricht, Maastricht, The Netherlands

    W. J. M. Gerver

Authors
  1. P. J. Willems
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  2. W. J. M. Gerver
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  3. R. Berger
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  4. J. Fernandes
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Willems, P.J., Gerver, W.J.M., Berger, R. et al. The natural history of liver glycogenosis due to phosphorylase kinase deficiency: A longitudinal study of 41 patients. Eur J Pediatr 149, 268–271 (1990). https://doi.org/10.1007/BF02106291

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  • DOI: https://doi.org/10.1007/BF02106291

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