Skip to main content

Advertisement

SpringerLink
Log in

Phosphorylase b kinase deficiency in man: a review

  • Published:
Journal of Inherited Metabolic Disease

Summary

Phosphorylase b kinase is involved in the activation of glycogen phosphorylase and is thus involved in the breakdown of glycogen. The enzyme exists as several tissue specific isoenzymes of which the muscle enzyme (rabbit) has been most characterized. It is a multimeric protein composed of four subunits, α, β, γ and δ. The four subunits are coded on different chromosomes, the α, β and γ subunit genes being on the X, 16 and 17 chromsomes respectively. The δ subunit is a calmodulin and confers calcium sensitivity on phosphorylase b kinase. Tissue specificity of the enzyme is conferred, at least in some cases, by variation in the γ subunit.

Seven different clinical types of phosphorylase b kinase deficiency have been described. The most common type is X-linked and affects the liver only; other types affect liver, muscle and liver, muscle or heart and have an autosomal recessive mode of inheritance, while in some types the mode of inheritance is not clear. Diagnosis based on the study of erythrocytes or leukocytes can be misleading due to the tissue specific nature of the enzyme, and liver or muscle biopsies may be required.

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

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  • Abarbanel, J. M., Bashan, N., Potashnik, R., Osimani, A., Moses, S. W. and Herishann, Y. Adult muscle phosphorylase ‘b’ kinase deficiency.Neurology 36 (1986) 560–562

    Google Scholar 

  • Alvarado, L. J. F., Gasca-Centeno, E. and Grier, R. E. Hepatic phosphorylase b kinase deficiency with normal enzyme activity in leukocytes.J. Pediatr. 113 (1988) 865–867

    Google Scholar 

  • Bashan, N., Iancu, T. C., Lerner, A., Fraser, D., Potashnik, R. and Moses, S. W. Glycogenesis due to liver and muscle phosphorylase kinase deficiency.Pediatr. Res. 15 (1981) 299–303

    Google Scholar 

  • Bashan, W., Potashnik, R., Ehrlich, T. and Moses, S. W. Phosphorylase kinase in leukocytes and erythrocytes of a patient with glycogen storage disease type IX.J. Inher. Metab. Dis. 10 (1987) 119–127

    Google Scholar 

  • Baussan, C., Moatti, N., Odievre, M. and Lemmonier, A. Liver glycogenesis caused by a defective phosphorylase system: hemolysate analysis.Pediatrics 67 (1981) 107–112

    Google Scholar 

  • Bender, P. K. and Emerson, C. P. Skeletal muscle phosphorylase kinase catalytic subunit mRNAs are expressed in heart tissue but not in liver.J. Biol. Chem. 262 (1987) 8799–8805

    Google Scholar 

  • Besley, G. T. N. Phosphorylase b kinase deficiency in glycogeneosis type VIII: Differentiation of different phenotypes and heterozygotes by erythrocyte enzyme assay.J. Inher. Metab. Dis. 10 (1987) 115–118

    Google Scholar 

  • Chamberlain, J. S., Van Tuinen, P., Reeves, A. A., Philip, B. A. and Caskey, C. T. Isolation of cDNA clones for the catalytic γ subunit of mouse muscle phosphorylase kinase: Expression of mRNA in normal and mutant PhK mice.Proc. Natl. Acad. Sci. USA 84 (1987) 2886–2890

    Google Scholar 

  • Chrisman, T. D., Jordan, J. E. and Exton, J. H. Purification of rat liver phosphorylase b kinase.J. Biol. Chem. 257 (1982) 10798–10804

    Google Scholar 

  • Cohen, P. The subunit structure of rabbit-skeletal muscle phosphorylase b kinase, and the melecular basis for its activation reactions.Eur. J. Biochem. 34 (1973) 1–14

    Google Scholar 

  • Cohen, P., Burchell, A., Foulkes, J. G., Cohen, P. T. W., Vanaman, T. C. and Nairn, A. C. Identification of the Ca2+-dependent modulation protein as the fourth subunit of rabbit skeletal muscle phosphorylase kinase.FEBS Lett. 92 (1978) 287–292

    Google Scholar 

  • Francke, U., Darras, B. T., Zander, N. F. and Kilimann, M. W. Assignment of human genes for phosphorylase kinase subunits β (PHKA) to Xq12–q13 and β (PHKB) to 16q12–q13.Am. J. Hum. Genet. 45 (1989) 276–282

    Google Scholar 

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

    Google Scholar 

  • Gray, R. G. F., Kumar, D. and Whitfield, A. E. Glycogen phosphorylase b kinase deficiency in three siblings.J. Inher. Metab. Dis. 6 (1983) 107

    Google Scholar 

  • Hems, D. A. and Whitton, P. D. Control of hepatic glycogenolysis.Physiol. Rev. 60 (1980) 1–50

    Google Scholar 

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

    Google Scholar 

  • Hug, G., Schubert, W. K. and Chuck, G. Deficient activity of diphosphophosphorylase kinase and accumulation of glycogen in the liver.J. Clin. Invest. 48 (1969) 704–715

    Google Scholar 

  • Hug, G., Schubert, W. K. and Chuck, G. Loss of cyclic 3151-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 (1970) 982–988

    Google Scholar 

  • Huijing, F. Phosphorylase kinase in leucocytes of normal subjects and of patients with glycogen storage disease.Biochem. Biophys. Acta 148 (1967) 601–603

    Google Scholar 

  • Huijing, F. Glycogen storage disease type VIa: low phosphorylase kinase activity caused by a low enzyme–substrate affinity.Biochim. Biophys. Acta 206 (1970) 199–201

    Google Scholar 

  • Huijing, F. Glycogen metabolism and glycogen storage diseases.Physiol. Rev. 55 (1975) 609–658

    Google Scholar 

  • Huijing, F. and Fernandes, J. X-Chromosomal inheritance of liver glycogenosis with phosphorylase kinase deficiency.Am. J. Hum. Genet. 21 (1969) 275–284

    Google Scholar 

  • Iwamasa, T., Fukuda, S., Tokumitsu, S., Ninomiya, N., Matsuda, J. and Osame, M. Myopathy due to glycogen storage disease: Pathological and biochemical studies in relation to glycogenosome formation.Exp. Mol. Pathol. 38 (1983) 405–420

    Google Scholar 

  • Kikuchi, M., Aikawa, J., Ishizawa, S., Igarashi, Y., Narisawa, K. and Tada, K. Enzymatic analysis in lymphocytes and erythrocytes from six patients with different phenotypes of phosphorylase kinase deficiency.J. Inher. Metab. Dis. 11 (1988) 315–318

    Google Scholar 

  • Kilimann, M. W., Zander, N. F., Kuhn, C. C., Crabb, J. W., Meyer, H. E. and Heilmeyer, L. M. G. The α and β subunits of phosphorylase kinase are homologues: cDNA cloning and primary structure of the β subunit.Proc. Natl. Acad. Sci. USA 85 (1988) 9381–9385

    Google Scholar 

  • Lawrence, J. C., Chi, M. M. Y. and Lowry, O. H. Isozymes of phosphorylase kinase in rabbit skeletal muscle. Functional implications of differences in phosphorylase kinase and phosphorylase activities in individual muscle fibers.J. Biol. Chem. 261 (1986) 8556–8563

    Google Scholar 

  • Lederer, B., van de Werve, G., de Barsy, T. and Hers, H. G. Glycogen phosphorylase and its converter enzymes in haemolysatis of normal human subjects and of patients with type VI glycogen storage disease.Biochem. J. 147 (1975) 23–35

    Google Scholar 

  • Lederer, B., van de Werve, G., de Barsy, T. and Hers, H. G. The autosomal form of phosphorylase kinase deficiency in man: reduced activity of the muscle enzyme.Biochem. Biophys. Res. Commun. 92 (1980) 169–174

    Google Scholar 

  • Lerner, A., Iancu, T. C., Bashan, W., Potashnik, R. and Moscs, S. A new variant of glycogen storage disease.Am. J. Dis. Child. 136 (1982) 406–410

    Google Scholar 

  • Migion, B. R. and Huijing, F. Glycogen storage disease associated with phosphorylase kinase deficiency: evidence for X inactivation.Am. J. Hum. Genet. 26 (1974) 360–368

    Google Scholar 

  • Mizuta, K., Hashimoto, E., Tsutou, A., Eishi, Y., Takemura, T., Narisawa, K. and Yamamura, H. A new type of glycogen storage disease caused by deficiency of cardiac phosphorylase kinase.Biochem. Biophys. Res. Commun. 119 (1984) 582–587

    Google Scholar 

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

    Google Scholar 

  • Ohtani, Y., Matsuda, I., Iwamasa, T., Tamari, H., Origuchi, Y. and Miike, T. Infantile glycogen storage myopathy in a girl with phosphorylase kinase deficiency.Neurology (NY) 32 (1982) 833–838

    Google Scholar 

  • Sakai, K., Matsumara, S., Okimura, Y., Yamamura, H. and Nishizuha, Y. Liver glycogen phosphorylase kinase. Partial purification and characterization.J. Biol. Chem. 254 (1979) 6631–6637

    Google Scholar 

  • Schimke, R. N., Zakheim, R. M., Corder, R. C. and Hug, G. Glycogen storage disease type IX: Benign glycogenosis of liver and hepatic phosphorylase kinase deficiency.J. Pediatr. 83 (1973) 1031–1034

    Google Scholar 

  • Servidei, S., Mitlay, L. A., Chodosh, J. and DiMauro, S. Fatal infantile cardiopathy caused by phosphorylase b kinase deficiency.J. Pediatr. 113 (1988) 82–85

    Google Scholar 

  • Shuster, J. R., Chan, R. F. J. and Graves, D. J. Isolation and properties of the catalytically active γ-subunit of phosphorylase b kinase.J. Biol. Chem. 255 (1980) 2203–2210

    Google Scholar 

  • Søvik, O., de Barsy, T. and Maehle, B. Phosphorylase kinase deficiency: severe glycogen storage disease with evidence of autosomal recessive mode of inheritance.Eur. J. Pediatr. 139 (1982) 210

    Google Scholar 

  • Tuchman, M., Brown, B. I., Burke, B. A. and Ulstrom, R. A. Clinical and laboratory observations in a child with hepatic phosphorylase kinase deficiency.Metabolism 35 (1986) 627–633

    Google Scholar 

  • Vandenheede, J. R., De Wulf, H. and Merlevede. Liver phosphorylase b kinase. Cyclic-AMP-mediated activation and properties of the partiall purified rat-liver enzyme.Eur. J. Biochem. 101 (1979) 51–58

    Google Scholar 

  • Willems, P. J., Gerver, W. J. M., Berger, R. and Fernandes, J. The natural history of liver glycogenosis due to phosphorylase b kinase deficiency. A longitudinal study of 41 patients.Eur. J. Pediatr. 149 (1990) 268–271

    Google Scholar 

  • Zander, N. F., Meyer, H. E., Hoffmann-Posorske, E., Crabb, J. W., Heilmeyer, L. M. G. and Kilimann, M. W. cDNA cloning and complete primary structure of skeletal muscle phosphorylase kinase (α subunit).Proc. Natl. Acad. Sci. USA 85 (1988) 2929–2933

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. University Children's Hospital ‘Het Wilhelmina Kinderziekenhuis’, Nieuwe Gracht 137, NL-3512 LK, Utrecht, The Netherlands

    I. E. T. van den Berg & R. Berger

Authors
  1. I. E. T. van den Berg
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. R. Berger
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

van den Berg, I.E.T., Berger, R. Phosphorylase b kinase deficiency in man: a review. J Inherit Metab Dis 13, 442–451 (1990). https://doi.org/10.1007/BF01799501

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF01799501

Keywords

Search

Navigation