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.
Keywords
- Glycogen Storage Disease
- Glycogen Phosphorylase
- High Protein Diet
- Enzyme Deficiency
- Glycogen Storage Disease Type
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
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
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
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)
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
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
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
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
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
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
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
Chui, L. A. and Munsat, T. L. Dominant inheritance of McArdle’s syndrome. Arch. Neurol. 33 (1976) 636–641
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
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
DiMauro, S. and Hartlage, P. L. Fatal infantile form of muscle phosphorylase deficiency. Neurology 28 (1978) 1124–1129
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
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
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
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
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
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
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.
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
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
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
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
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
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
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
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
McArdle, B. Myopathy due to a defect of muscle glycogen breakdown. Clin. Sci. 24 (1951) 13–33
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
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
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
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
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
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
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
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
Servidei, S., Metlay, L. A., Chodosh, J. and DiMauro, S. Fatal cardiopathy caused by phosphorylase hkinase deficiency. J. Pediatr. 113 (1988b) 82–85
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
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
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
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
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
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
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
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
Van Hoof, F. and Hers, H. G. The subgroups of type III glycogenosis. Eur. J. Biochem. 2 (1967) 265–270
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
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
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights 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