Skip to main content
SpringerLink
Log in

Muscle Glycogenosis

  • Chapter
Carbohydrate and Glycoprotein Metabolism; Maternal Phenylketonuria

  • 99 Accesses

Summary

This review describes clinical, biochemical and genetic features of the four inborn errors affecting muscle glycogen breakdown, namely deficiencies of phosphorylase, phosphorylase kinase, amylo-1,6-glucosidase and acid α-glucosidase. They are characterized by a wide spectrum of clinical manifestation, affecting age of onset, clinical features, progress of disease and tissue involvement. Biochemically, variability of all four enzyme deficiencies is evident in terms of differences in residual enzyme present in tissues, and in the presence or absence of enzyme protein. Genetic heterogeneity, which has been documented in each of the enzyme deficiencies, manifests itself in terms of the presence, absence, quantity or size of mRNA. In phosphorylase deficiency heterogeneity has also been documented at the DNA level. In acid maltase deficiency nine mutant phenotypes have been described affecting various stages of lysosomal enzyme processing.

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 129.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 169.99
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

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

    PubMed  CAS  Google Scholar 

  • Abarbanel, J. M., Potashnik, R., Frisher, S., Moses, S. W., Osimani, A. and Herishanu, Y. Myophosphorylase deficiency: the course of an unusual congenital myopathy. Neurology 37 (1987) 316–318

    PubMed  CAS  Google Scholar 

  • Anderson, L., Fletterick, R., DiMauro, S., Hwang, P., Gorin, F. and Lebo, R. V. Restriction enzyme analysis of McArdle’s syndrome gene locus. Muscle and Nerve 9 (1986) 231 (abstract)

    Google Scholar 

  • Argov, Z., Bank, W. J., Maris, J. and Chance, B. Muscle energy metabolism in McArdle’s syndrome by in vivo phosphorus magnetic resonance spectroscopy. Neurology 37 (1987) 1720–1724

    PubMed  CAS  Google Scholar 

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

    Article  PubMed  CAS  Google Scholar 

  • Bashan, N., Potashnik, R., Barash, V., Gutman, A. and Moses, S. W. Glycogen storage diseasetype II in Israel. Isr. J. Med. Sci. 24 (1988) 224–227

    PubMed  CAS  Google Scholar 

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

    PubMed  CAS  Google Scholar 

  • Burke, J., Hwang, P., Anderson, L., Lebo, R., Gorin, F. and Fletterick, R. Intron/Exon structure of the human gene for the muscle isozyme of glycogen phosphorylase. Proteins 2 (1987) 177–187

    Article  PubMed  CAS  Google Scholar 

  • Busch, H. F. M., Koster, J. F. and van Weerden, T. W. Infantile and adult-onset acid maltase deficiency occurring in the same family. Neurology 29 (1979) 415–416

    PubMed  CAS  Google Scholar 

  • Chen, Y. T., He, J. K., Ding, J. H. and Brown, B. I. Glycogen debranching enzyme: Purification, antibody characterisation, and immunoblot analysis of type Ill glycogen storage disease. Am. J. Hum. Genet. 41 (1987) 1002–1015

    PubMed  CAS  Google Scholar 

  • Chui, L. A. and Munsat, T. L. Dominant inheritance of McArdle’s syndrome. Arch. Neurol. 33 (1976) 636–641

    Article  PubMed  CAS  Google Scholar 

  • Courtecuisse, V., Royer, P., Habib, R., Monniere, C. and Demos, J. Glycogenose musculaire pare deficit d’alpha-1,4-glucosidase simulant une dystrophy musculaire progressive. Arch. Franc. Pediatr. 22 (1965) 1153–1164

    Google Scholar 

  • Daegelen, D., Munnich, A., Levin, M. J., Girault, A., Goasguen, J., Kahn, A. and Dreyfus, J. C. Absence of functional messenger RNA for glycogen phosphorylase in the muscle of two patients with McArdle’s disease. Ann. Hum. Genet. 47 (1983) 107–115

    Article  PubMed  CAS  Google Scholar 

  • DiMauro, S. and Hartlage, P. L. Fatal infantile form of muscle phosphorylase deficiency. Neurology 28 (1978) 1124–1129

    PubMed  CAS  Google Scholar 

  • DiMauro, S. and Bresolin, N. Phosphorylase deficiency. In Engel, A. G. and Banker, B. Q. (eds.), Myology, McGraw-Hill, New York, 1986, pp. 1585–1601

    Google Scholar 

  • Ding, J. H., Harris, D. A., Bing-Zi, Y. and Chen, Y. T. Cloning of cDNA for human muscle glycogen debrancher, the enzyme deficient in type III glycogen storage disease. Pediatr. Res. 25 (1989) 140 A

    Google Scholar 

  • Duboc, D., Jehenson, P., Tran Dinh, S., Marsac, C., Syrota, A. and Fardeau, M. Phosphorus NMR spectroscopy study of muscular enzyme deficiencies involving glycogenolysis and glycolysis. Neurology 37 (1978) 663–671

    Google Scholar 

  • Engel, A. G., Gomez, M. R., Seybold, M. E. and Lambert, E. H. The spectrum and diagnosis of acid maltase deficiency. Neurology 23 (1973) 95–106

    PubMed  CAS  Google Scholar 

  • Engel, W. K., Eyerman, E. L. and Williams, H. E. Late onset type of skeletal muscle phosphorylase deficiency. A new familial variety with completely and partially affected subjects. N. Engl. J. Med. 268 (1963) 135–137

    Article  CAS  Google Scholar 

  • Gautron, S., Daegelen, D., Mennecier, F., Dubocq, D., Kahn, A. and Dreyfus, J. C. Molecular mechanisms of McArdle’s disease (muscle glycogen phosphorylase deficiency). J. Clin. Invest. 79 (1987) 275–281

    Article  PubMed  CAS  Google Scholar 

  • Hers. H. G. and De Barsy, T. Type II glycogenosis (acid maltase deficiency). In Hers, H. G. and Van Hoof, F. (eds.) Lysosomes and Storage Diseases, Academic Press, New York, 1973, pp. 197–216.

    Google Scholar 

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

    Article  PubMed  CAS  Google Scholar 

  • Hug, G. and Schubert, W. K. Lysosomes in type II glycogenosis. Changes during administration of extract from Aspergillus niger. J. Cell. Biol. 35 (1967) C1—C6

    Article  PubMed  CAS  Google Scholar 

  • Illingworth-Brown, B. Debranching and branching enzyme deficiencies. In Engel, A. G. and Banker, B. Q. (eds.). Petrology, McGraw-Hill, New York, 1986, pp. 1653 1662

    Google Scholar 

  • Lebo, R. V., Gorin, F., Fletterick, R. J., Lao, F. T., Cheung, M. C., Bruce, B. D. and Kan, Y. W. High resolution chromosome sorting and DNA spot-blot analysis assign McArdle’s syndrome to chromosome 11. Science 225 (1984) 57 - -59

    Article  PubMed  CAS  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

    Article  Google Scholar 

  • Lewis, S. F. and Haller, R. G. The pathophysiology of McArdle’s disease: clues to regulation in exercise and fatigue. J. Appl. Physiol. 61 (1986) 391–401

    CAS  Google Scholar 

  • Lin. C. Y., Hwang, B., Hsiao, K. J. and Jin. Y. R. Pompe’s disease in China and prenatal diagnosis by determination of x-glucosidase activity. J. Itther. Metab. Dis. 10 (1987) 11–17

    Google Scholar 

  • Martiniuk, F.. Mehler, M., Pellicer, A., Tzall, S., La Badie, G., Hobart, C., Ellenbogen, A. and Hirschhorn, R. Isolation of a cDNA for human acid x-glucosidase and detection of genetic heterogeneity for mRNA in three s-glucosidase-deficient patients. Proc. Natl. Acad. Sci. USA 83 (1986) 9641–9644

    Article  PubMed  CAS  Google Scholar 

  • McArdle, B. Myopathy due to a defect of muscle glycogen breakdown. Clin. Sci. 24 (1951) 13–33

    Google Scholar 

  • Mineo, I., Kono, N., Hara, N., Shimizu, T., Yamada, Y., Kawachi, M., Kiyokawa, H., Wang, Y. L. and Tarui, S. Myogenic hyperuricemia: a common pathophysiologic feature of glycogenosis types III, V, and VII. N. Engl. J. Med. 317 (1987) 75–80

    Article  PubMed  CAS  Google Scholar 

  • Mizuta, K., Kashimoto, E. and Tsutou, A. A new type of glycogen storage disease caused by deficiency of cardiac phosphorylase kinase. Biochem. Biophys. Res. Commun. 119 (1984) 582–587

    Article  PubMed  CAS  Google Scholar 

  • Moses, S. W., Gadoth, N., Bashan, N., Ben-David, E., Slonim, A. and Wanderman, K. L. Neuromuscular involvement in glycogen storage disease type III. Acta Paediatr. Scand. 75 (1986) 289–296

    Article  PubMed  CAS  Google Scholar 

  • Moses, S. W., Wanderman, K. L., Myroz, A. and Friedman, M. Cardiac involvement in glycogen storage disease type III. Eur. J. Pediatr. 431 (1989) 1–3

    Google Scholar 

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

    PubMed  CAS  Google Scholar 

  • Reuser, A. J. J., Kroos, M., Willemsen, R., Swallow, D., Tager, J. M. and Galjaard, H. Clinical diversity in glycogenosis type II. J. Clin. Invest. 79 (1987) 1689–1699

    Article  PubMed  CAS  Google Scholar 

  • Schmidt, B., Servidei, S., Gabbai, A. A., Silva, A. C., de Sousa Bulle de Oliveira, A. and DiMauro, S. McArdle’s disease in two generations: autosomal recessive transmission with manifesting heterozygote. Neurology 37 (1987) 1558–1561

    PubMed  CAS  Google Scholar 

  • Servedei, S., Shanske, S., Zeviani, M., Lebo, R., Fletterick, R. and DiMauro, S. McArdle’s disease: biochemical and molecular genetic studies. Ann. Neurol. 24 (1988a) 774–781

    Article  Google Scholar 

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

    Article  PubMed  CAS  Google Scholar 

  • Slonim, A. E. and Goans, P. J. Myopathy in McArdle’s syndrome. Improvement with a high protein diet. N. Engl. J. Med. 312 (1985) 355–359

    Article  PubMed  CAS  Google Scholar 

  • Slonim, A. E., Coleman, R. A., Moses, S., Bashan, N., Shipp, E. and Mushlin, P. Amino acid disturbance in type III glycogenosis: differences from type I glycogenosis. Metabolism 32 (1983a) 70–74

    Article  PubMed  CAS  Google Scholar 

  • Slonim, A. E., Coleman, R. A., McElligot, M. A., Najjar, J., Hirschhorn, K., Labadie, G. U., Mrak, R., Evans, O. B., Shipps, E. and Presson, R. Improvement of muscle function in acid maltase deficiency by high protein therapy. Neurology 33 (1983b) 34–38

    PubMed  CAS  Google Scholar 

  • Slonim, A. E., Coleman, R. A. and Moses, S. W. Myopathy and growth failure in debrancher enzyme deficiency: Improvement with high-protein nocturnal enteral therapy. J. Pediatr. 105 (1984) 906–911

    Article  PubMed  CAS  Google Scholar 

  • Tachi, N., Tachi, M., Sasaki, K., Tonvita, H., Wakai, S., Annaka, S., Minami, R., Tsurui, S. and Sugie, S. Glycogen storage disease with normal acid maltase: skeletal and cardiac muscle. Pediatr. Neurol. 5 (1989) 60–63

    Article  PubMed  CAS  Google Scholar 

  • Umpleby, M., Wiles, C. M., Trend, P., Scobie, I. N., Macleod, A. F., Spencer, G. T. and Sonsken, P. H. Protein turnover in acid maltase deficiency before and after treatment with high protein diet. J. Neurol. Neurosurg. and Psychiatry 50 (1987) 587–592

    CAS  Google Scholar 

  • Van der Horst, G. T. J., Hoefsloot, E. H., Kroos, M. A. and Reuser, A. J. J. Cell free translation of human lysosomal s-glucosidase: evidence for reduced precursor synthesis in an adult patient with glycogenosis type II. Biochim. Biophys. Acta 910 (1987) 123–129

    PubMed  Google Scholar 

  • Van der Ploeg, A. T., Loonen, M. C. B., Bolhuis, P. A., Busch, H. M. F., Reuser, A. J. J. and Galjaard, H. Receptor mediated uptake of acid a-glucosidase corrects lysosomal storage in cultured skeletal muscle. Pediatr. Res. 24 (1988) 90–94

    PubMed  Google Scholar 

  • Van Hoof, F. and Hers, H. G. The subgroups of type III glycogenosis. Eur. J. Biochem. 2 (1967) 265–270

    Article  PubMed  Google Scholar 

  • Wahren, J., Felig, P., Havel, R. J., Jorfeldt, L., Pernow, B. and Saltin, B. Amino acid metabolism in McArdle’s syndrome. N. Engl. J. Med. 288 (1973) 774–777

    Article  PubMed  CAS  Google Scholar 

  • Watson, G. J., Gardner-Medwin, D., Goldfinch, M. E. and Pearson, A. D. J. Bone marrow transplantation for glycogen storage disease type II (Pompe’s disease). N. Engl. J. Med. 314 (1986) 385

    PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Pediatrics, Faculty of Health Sciences, Ben Gurion University of the Negev, Beer-Sheva, 84101, Israel

    S. W. Moses

Authors
  1. S. W. Moses
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. Department of Clinical Biochemistry, Institute of Child Health, 30 Guildford Street, WC1N 1EH, London, UK

    R. A. Harkness

  2. Sheffield, UK

    R. J. Pollitt

  3. Manchester, UK

    G. M. Addison

Rights and permissions

Reprints and permissions

Copyright information

© 1990 SSIEM and Kluwer Academic Publishers

About this chapter

Cite this chapter

Moses, S.W. (1990). Muscle Glycogenosis. In: Harkness, R.A., Pollitt, R.J., Addison, G.M. (eds) Carbohydrate and Glycoprotein Metabolism; Maternal Phenylketonuria. Springer, Dordrecht. https://doi.org/10.1007/978-94-009-2175-7_7

Download citation

  • DOI: https://doi.org/10.1007/978-94-009-2175-7_7

  • Publisher Name: Springer, Dordrecht

  • Print ISBN: 978-0-7923-8947-7

  • Online ISBN: 978-94-009-2175-7

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics

Search

Navigation