Summary
The mild, generalized myopathy (glycogenosis type II) of a 23-year-old male, previously thought to have progressive muscular dystrophy, was studied clinically, electromyographically, biochemically and with the light- and electron microscopes. However, the history and clinical aspects, as well as the registration of high frequency discharges in the electromyogram first made the diagnosis uncertain. This kind of spontaneous activity has been found in nearly all cases reported in the literature. Light microscopic and histochemical examinations show vacular degeneration and glycogen storage in muscle fibres. With the electron microscope we found free dispersed glycogen in the cytoplasm and membrane-bound glycogen, glycogen-filled lysosomes. Biochemical measurements of the muscle enzymes, involved in the glycogen breakdown, were normal except for acid α-1,4-glucosidase, which was deficient. The evidence of these findings in this abortive form of glycogenosis type II is discussed and compared with the few cases found in the literature.
Zusammenfassung
Eine zunächst als progressive Muskeldystrophie diagnostizierte Myopathie bei einem 23jährigen Patienten wurde klinisch, elektromyographisch, biochemisch, licht- und elektronenmikroskopisch untersucht. Wir fanden eine leichte, schwach progrediente Myopathie, elektromyographisch ein myopathisches Muster und pseudomyotone Schauer, histologisch-histochemisch eine vacuoläre Degeneration mit Glykogenspeicherung und Zunahme der sauren Phosphatase und elektronenoptisch eine cytoplasmatische und intralysosomale Glykogenspeicherung. Biochemisch wurde ein Mangel an saurer α-1,4-Glucosidase im Muskel nachgewiesen. Die Bedeutung dieser Befunde und die Problematik der Glykogenose Typ II, insbesondere der hier vorgestellten „abortiven“ Form im Erwachsenenalter, wird anhand der Literatur diskutiert.
Similar content being viewed by others
References
Angelini, C., Engel, A. G.: Comparative study of acid maltase deficiency. Arch. Neurol. 26, 344–349 (1972)
Angelini, C., Engel, A. G.: Subcellular distribution of acid and neutral α-glucosidase in normal, acid maltase deficient and myophosphorylase deficient human skeletal muscle. Arch. Biochem. Biophys. 156, 350–355 (1973)
Angelini, C., Engel, A. G., Titus, J. L.: Adult maltase deficiency. New Engl. J. Med. 9, 948–951 (1972)
Angelini, C., Engel, A. G., Titus, J. L.: Type II glycogenosis in adults. Letter to the editor. New Engl. J. Med. 288, 217 (1973)
Badoual, J., Lestradet, H.: Les glycogenoses. Path. et Biol. 16, 457–469 (1968)
Badoual, J., Lestradet, H., Vilde, J.-L., Ploussard, J.-P.: Une forme atypique de glycogènose par déficit en maltase acid. Sem. Hôp. Ann. Pediat. 43, 415–422 (1967)
Baudhuin, P., Hers, H. G., Loeb, H.: An electron microscopic and biochemical study of type II glycogenosis. Lab. Invest. 13, 1139–1159 (1964)
Benson, P. F., Blunt, S., Brown, S. P., Nash, F. W., Tiller, M.: Pompes' disease-detection on maternal heterozygote and antenatal exclusion in the fetus. Guy's Hosp. Rep. 121, 137–146 (1972)
Bordiuk, J. M., Legato, M. J., Lovelace, R. E., Blumenthal, S.: Pompe's disease. Arch. Neurol. 23, 113–119 (1970)
Bourne, E. J., Clarke, K., Pridham, J. B., Rowe, J. J. M.: Studies on type II glykogenosis. Biochem. J. 121, 663–666 (1971)
Brooke, M. H., Kaiser, K. K.: Muscle fiber types: How many and what kind. Arch. Neurol. 23, 369–379 (1970)
Brown, B. I., Brown, D. H.: The experimental production of glycogen storage in cultured human fibroblasts. Biophys. Res. Commun. 46, 1292–1298 (1972)
Brown, B. I., Zellweger, H.: α-1,4-glucosidase activity in leucocytes from the family of two brothers who lack this enzymes in muscle. Biochem. J. 101, 160–180 (1966)
Buchthal, F., Rosenfalck, P.: Electrophysiological aspects of myopathy with particular reference to progressive muscular dystrophy. In: Bourne, G. H., Golarz, N., Muscular dystrophy in man and animals. New York: Karger 1963
Canal, N., Frattola, L., Pellegrini, G.: Skeletal muscle glycogenosis type II: Biochemical and electron mikroscopic investigations of one case. Z. Neurol. 201, 98–108 (1972)
Cardiff, R. D.: A histochemical and electron microscopic study of sceletal muscle in a case of Pompe's disease (glycogenosis II). Pediatrics 37, 249–259 (1966)
Coutrecouisse, V., Royer, P., Habib, R., Monnier, C., Demos, J.: Glycogenose musculaire par deficit d'alpha-1,4-glucosidase simulant une dystrophie musculaire progressive. Arch. franç. Pédiat. 22, 1154–1164 (1965)
Cori, G. T.: Biochemical aspects of glycogen deposition disease. Mod. Probl. Pädiat. 3, 344 (1957)
Daems, W. T., Van Gemund, J. J., Vio, P. M. A., Willighagen, R. G. J., Den Tandt, W. R.: The use of intertuial suction-biopsy material for the study of lysosomal storage disease. In: Hers, H. G., Van Hoof, F., Lysosomes and storage diseases. New York-London: Academic Press 1973
Di Mauro, S., Rowland, L. P., Di Mauro, P. M.: Control of glycogen metabolism in human muscle. Arch. Neurol. 23, 534–540 (1970)
Di Mauro, S., Rowland, L. P., Mellman, W. J.: Glycogen metabolism of human fibroblast cells in culture. I. Studies of cells from patients with glycogenosis types I, II, III, and V. Pediat. Res. 7, 739–744 (1973)
Di Sant Agnese, P. A.: Diseases of glycogen storage with special reference to the cardiac type of generalized glycogenosis. Ann. N.Y. Acad. Sci. 72, 439–450 (1959)
Dreyfus, J. C., Alexandre, Y.: Electrophoretic and immunological characterisation of acidic and neutral amylo-1,4-glucosidase (acid maltase) in human tissue and evidence for two variants in acid maltase deficiency. In: Kunze, K., Desmedt, J. E., Studies on neuromuscular diseases. Proc. Int. Symp. Giessen 1973. Basel: Karger 1975
Dubowitz, V., Brooke, M. M.: Muscle biopsy: A modern approach. London-Philadelphia-Toronto: Saunders 1973
Engel, A. G.: Ultrastructural reactions in muscle disease. Med. Clin. N. Amer. 52, 909–931 (1968)
Engel, A. G.: Acid maltase deficiency in adult life. Morphologic and biochemical data in 3 cases of a syndrome simulating other myopathies. In: Muscle diseases. Proc. Int. Congr. Milan 1969. Amsterdam: Excerpta Medica 1970a
Engel, A. G.: Acid maltase deficiency in adults: Studies in four cases of a syndrome which may mimic muscular dystrophy or other myopathies. Brain 93, 599–616 (1970b)
Engel, A. G., Dale, J. D.: Autophagic glycogenosis of late onset with mitochondrial abnormalities: Light and electron microscopic observations. Mayo Clin. Proc. 43, 233–279 (1968)
Engel, A. G., Gomez, M. R.: Acid maltase levels in muscle in heterozygous acid maltase deficiency and in non-weak and neuromuscular disease controls. J. Neurol. Neurosurg. Psychiat. 33, 801–804 (1970)
Engel, A. G., Gomez, M. R., Seybold, M. E., Lambert, E. H.: The spectrum and diagnosis of acid maltase deficiency. Neurology 23, 95–106 (1973)
Engel, A. G., McDonald, R. D.: Ultrastructural reactions in muscle diseases and their light-microscopic correlats. In: Muscle diseases. Proc. Int. Congr. Milan 1969. Amsterdam: Excerpta Medica 1970
Eisen, A. A., Karpati, G.: Spontaneous electrical activity in muscle. J. neurol. Sci. 12, 121–135 (1971)
Erbslöh, F., Krämer, W.: Skeletal muscle glycogenosis in adult life. In: Muscle diseases. Proc. Int. Congr. Milan 1969. Amsterdam: Excerpta Medica 1970
Galjaard, H., Mekes, M., De Josselin de Jong, J. E., Niemeijer, M. F.: A method for rapid prenatal diagnosis of glycogenosis II (Pompe's disease). Clin. chim. Acta 49, 361–375 (1973)
Garancis, J. C.: Type II glycogenosis. Amer. J. Med. 44, 289–300 (1968)
Hers, H. G.: α-glucosidase deficiency in generalized glycogen-storage disease (Pompe disease). Biochem. J. 86, 11–16 (1963)
Hers, H. G.: Glycogen storage disease. Advanc. Metab. Dis. 1, 144 (1964a)
Hers, H. G.: Glycogen storage disease, type II. In: Ciba Foundation Symposium: Control of glycogen metabolism. London: Churchill 1964b
Hers, H. G.: The role of lysosomes in the pathogenity of storage diseases. Biochemie 54, 753–756 (1971)
Hers, H. G.: The role of lysosomes in the pathogenity of storage diseases. Arch. belges Derm. 28, 52–57 (1972)
Hers, H. G., De Barsy, T.: Type II glycogenosis (acid maltase deficiency). In: Hers, H. G., Van Hoof, F., Lysosomes and storage diseases. New York-London: Academic Press 1973
Hers, H. G., Van Hoof, F.: Lysosomes and storage diseases. New York-London: Academic Press 1973
Hogan, R. G., Gutmann, L., Schmidt, R., Gilbert, E.: Pompe's disease. Neurology 19, 894–900 (1969)
Hudgson, P., Gardner-Medwin, D., Worsfold, M., Pennington, R. J. T., Walton, J. N.: Adult myopathy from glycogen storage disease due to acid maltase deficiency. Brain 91, 435–462 (1968)
Hug, G., Garancis, J. C., Schubert, W. K., Kaplan, S.: Glycogen storage disease, types II, III, VIII, and IX. Amer. J. Dis. Child. 111, 457–474 (1966)
Hug, G., Schubert, W. K.: Lysosomes in type II glycogenosis. J. Cell Biol. 35, C-1–C-6 (1967)
Hug, G., Schubert, W. K., Soukup, S.: Ultrastructure and enzymatic deficiency of fibroblast cultures in type II glycogenosis. Pediat. Res. 5, 107–112 (1971)
Hug, G., Schubert, W. K., Soukup, S.: Type II glycogenosis in adults. Letter to the editor. New Engl. J. Med. 288, 216–217 (1973)
Hurwitz, L. J., McCormick, D., Allen, I. V.: Reduced muscle α-glucosidase activity in hypothyroid myopathy. Lancet 1970 I, 6769
Isch, F., Juif, J. G., Sacrez, R., Thiebaut, F.: Glycogénose musculaire a forme myopathique par défizit en maltase acide. Pédiatrie 21, 71–86 (1966)
Ketelsen, U. P., Beckmann, R., Nolte, J., Menzel, K.: Ergebnisse klinischer, biochemischer, lichtmikroskopischer und ultrastruktureller Untersuchungen einer kindlichen Muskelglykogenose bei zwei Brüdern und deren Schwester. Z. Kinderheilk. 116, 23–41 (1973)
Kelleter, R., Seiler, D.: Glycogen breakdown in human lymphozytes: Activities of phosphorylase and α-1,4-glucosidase. Clin. chim. Acta 42, 57–61 (1972)
Kölmel, H. W., Assmus, H., Seiler, D.: Myopathie bei Saure-Maltase-Mangel. Arch. Psychiat. Nervenkr. 218, 93–106 (1974)
Koster, J. F., Slee, R. G., Hülsmann, W. C.: The use of leucocytes as an aid in the diagnosis of a variant of glycogen storage disease type II (Pompe's disease). Europ. J. clin. Invest. 2, 467–471 (1972)
Leathwood, P. D., Ryman, B. E.: Glycogénoses. Med. Chir. Dig. 1, 149–152 (1972)
Lestradet, H., Deschamps, I., Tichet, J.: Les glycogénoses. Ann. Biol. clin. 30, 397–410 (1972)
Ludin, H. P.: Pathophysiologische Grundlagen elektromyographischer Befunde bei Neuropathien und Myopathien. Stuttgart: Thieme 1973
Mancall, E. L., Aponte, G. E., Berry, R. G.: Pompe's disease (diffuse glycogenosis) with neuronal storage. J. Neuropath. exp. Neurol. 24, 85–96 (1965)
Martin, J. J., De Barsy, T., Van Hoof, F., Palladini, G.: Pompe's disease: An inborn lysosomal disorder with storage of glycogen. Acta neuropath. (Berl.) 23, 229–244 (1973)
Moe, P. J., Garatun-Tjeldst, E., Garatun-Tjeldst, O., Raae, A. F., Vogt, H.: Glycogen storage disease in Norway. Acta paediat. scand. 61, 536–543 (1972)
Öckerman, P. A.: Incidence of glycogen storage disease in Sweden. Acta paediat. scand. 61, 533–535 (1972)
Palmer, T. N.: The substrat specifity of acid α-glucosidase from rabbit muscle. Biochem. J. 124, 701–711 (1971)
Platt, D.: Biochemie und Klinik der Glykogenosen. Dtsch. med. Wschr. 27, 1420–1421 (1969)
Platt, D., Platt, M.: Glykogenose Typ II (Pompe'sche Krankheit) mit α-Amylase- und Hyaluronidase-Mangel. Dtsch. med. Wschr. 27, 1414–1416 (1969)
Pompe, J. C.: Over idiopathische hypertrophie van het hart. Ned. T. Geneesk. 76, 304–311 (1932)
Pompe, J. C.: Hypertrophie idiopathique du coeur. Ann. Anat. path. 10, 23–35 (1933)
Ricker, K., Meinck, H. M.: Verlaufsdynamik und Herkunft pseudomyotoner Entladungsserien bei Denervationssyndromen. Z. EEG-EMG 3, 170–178 (1972)
Russo, G., Patane, R., Schiliro, G.: Su due casi di malattia di Pompe. Minerva pediat. 23, 1543–1548 (1971)
Seiler, D., Kelleter, R., Kölmel, H. W., Heene, R.: α-1,4-glucosidase activity in leukocytes and lymphocytes of 2 adult patients with glycogen-storage disease type II (Pompe's disease). Experientia (Basel) 29, 972–973 (1973)
Sidbury, J. B.: The genetics of the glycogenoses affecting muscle. In: Milhorat, A. T., Exploratory concepts in muscular dystrophy and related disorders. Amsterdam: Excerpta Medica Foundation 1967
Sluga, E.: Die Aktivitätsveränderungen der sauren Maltase bei verschiedenen neuromuskulären Erkrankungen. In: Fortschritte in Erkennung und Behandlung der Muskelkrankheiten. Symp. 1972. Freiburg: Oberkirch 1973
Smith, H. L., Amick, L. D., Sidbury, J. B. S.: Type II glycogenosis. Amer. J. Dis. Child. 111, 475–481 (1966)
Smith, J., Zellweger, H., Afifi, A. K.: Muscular form of glycogenosis type II (Pompe). Neurology 17, 537–549 (1967)
Swaiman, K. F., Kennedy, W. R., Sauls, H. S.: Late infantile acid maltase deficiency. Arch. Neurol. 18, 642–648 (1968)
Van Hoof, F., De Barsy, T., Jaquemin, P., Devos, P., Hers, H. G.: Glycogen storage diseases. Biochemie 54, 745–751 (1972)
Witzleben, C. L.: Renal cortical tubular glycogen localisation in glycogenosis type II (Pompe's disease). Lab. Invest. 20, 424–429 (1969)
Wolfe, H. J., Cohen, R. B.: Nonglycogen storage in glycogenosis type 2. Arch. Path. 86, 579–584 (1968)
Zacchello, F., Tenconi, R., Baccichetti, C.: Glycogenosis type II: Glycogen storage in cell cultures from muscle. Experientia (Basel) 25, 1316–1317 (1969)
Zellweger, B. H.: The floppy infant syndrome in muscular glycogenosis. Pädiat. Pädol. 7, 365–371 (1972)
Zellweger, B. H., Brown, B. I., McCormic, W. F., Jun-Bi Tu: A mild form of muscular glycogenosis in two brothers with alpha-1,4-glucosidase deficiency. Ann. Pediat. 205, 413–437 (1965)
Zellweger, B. H., Dark, A., Abu Haidar, B. C., Abu Haidar, G. A.: Glycogen disease of skeletal muscle. Pediatrics 15, 715–731 (1955)
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Schlenska, G.K., Heene, R., Spalke, G. et al. The symptomatology, morphology and biochemistry of glycogenosis type II (Pompe) in the adult. J. Neurol. 212, 237–252 (1976). https://doi.org/10.1007/BF00314526
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00314526