Summary
We determined glycogen concentration and phosphorylase ‘a+b’ and phosphorylase a activities in platelets, mononuclear and polymorphonuclear cells from control subjects and patients with phosphorylase kinase deficiency (glycogen storage disease IX) and liver phosphorylase deficiency (glycogen storage disease VI). Variations according to cellular type and to subjects' age (1–40 years) were established. Variable glycogen overloading was found in all our patients. Glycogen storage disease (GSD) VI was characterized by a diminished total phosphorylase activity with a low or normal a/(a+b) ratio of phosphorylase activity. GSD IX was characterized by a very low residual activity of phosphorylase a with an ‘a+b’ activity low or normal.
Similar content being viewed by others
References
Baussan, C., Moatti, N., Odievre, M. and Lemonnier, A. Liver glycogenosis caused by a defective phosphorylase system. Haemolysate analysis.Pediatrics 67 (1981) 107–112
Drummond, G. I., Hardwick, D. F. and Israels, S. Liver glycogen phosphorylase deficiency.Can. Med. Assoc. J. 102 (1970) 740–742
Gella, F. J., Cusso, R., Domingo, A. and Rosell-Perez, M. Glycogen phosphorylase from human normal and leukemic leucocytes: Activities and interconversions between active and inactive forms.Int. J. Biochem. 9 (1978) 701–707
Guibaud, P. and Mathieu, M. Hétérogénéité de la glycogénose type VI. Etude de l'activité de la phosphorylase leucocytaire dans deux familles.Arch. Fr. Pediatr. 29 (1972) 1043–1057
Hers, H. G. Glycogen storage disease. In Levine, R. and Luft, R. (eds.):Adv Metab. Disord. Academic Press, New York, 1964, pp. 1–44
Hug, G., Chuck, E., Wallin, L. and Schubert, W. K. Liver phosphorylase deficiency in glycogenosis type VI: Documentation by chemical analysis of hepatic biopsy specimens.J. Lab. Clin. Med. 84 (1974) 26–35
Huijing, F. Phosphorylase kinase in leucocytes of normal subjects and of patients with glycogen storage disease.Biochim. Biophys. Acta 148 (1967) 601–603
Huijing, F. Enzymes of glycogen metabolism in leucocytes in relation to glycogen storage disease. In Whelan, W. J. (ed.)Control of Glycogen Metabolism, Academic Press, London, 1968, pp. 115–128
Hülsmann, W. C., Oei, T. L., Van Creveld, S. Phosphorylase activity in leukocytes from patients with glycogen-storage disease.Lancet 2 (1961) 581–583
Koster, J. F., Fernandes, J., Slee, R. G., Van Berbel, T. J. C. and Hülsmann, W. C. Hepatic phosphorylase deficiency: A biochemical study.Biochem. Biophys. Res. Commun. 53 (1973) 282–290
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) 23–35
Lindena, J., Sommerfeld, U., Höpfel, C., Wolkersdofer, R. and Trautscholl, I. Enzyme activities in blood cells of man and dogs after separation on a discontinuous Percoll gradient.Enzyme 29 (1983) 100–108
Lowry, O. H., Rosebrough, N. J., Farr, A. L. and Randall, R. J. Protein measurement with the Folin-phenol reagent.J. Biol. Chem. 193 (1951) 265–275
Scott, R. B. Glycogen in human peripheral blood leukocytes. I. Characteristics of the synthesis and turnoverin vitro.J. Clin. Invest. 47 (1968) 344–352
Stalmans, W. and Hers, H. G. The stimulation of liver phosphorylase b 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 (1975) 341–350
Wagner, R., Huijing, F. and Porter, E. Hepatic glycogenosis due to phosphorylase deficiency. Limitations of enzyme studies on liver biopsy specimens.Am. J. Med. 51 (1971) 685–691
Williams, H. E. and Field, J. B. Low leukocyte phosphorylase in hepatic phosphorylase deficient glycogen storage disease.J. Clin. Invest. 40 (1961) 1841–1845
Yokio, S. and Amano, N. Glycogen in leukocytes from patients with hepatic encephalopathy.Acta Neuropathol. 62 (1984) 284–290
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Dahan, N., Baussan, C., Moatti, N. et al. Use of platelets, mononuclear and polymorphonuclear cells in the diagnosis of glycogen storage disease type VI. J Inherit Metab Dis 11, 253–260 (1988). https://doi.org/10.1007/BF01800366
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF01800366