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Virchows Archiv B

, 45:23 | Cite as

Infantile acid maltase deficiency

I. Muscle fiber destruction after lysosomal rupture
  • Joe L. Griffin
Article

Summary

The loss of normal ultrastructure of skeletal muscle during the relentless course of infantile acid maltase deficiency (AMD) is re-examined in the light of the lysosomal rupture hypothesis. This hypothesis suggests that movement and increased myofibril rigidity during contraction cause lysosomes in muscle to rupture and release glycogen and other lysosomal contents to a much greater extent than do lysosomes in other cell types in cases of infantile AMD. Muscle fibers are destroyed, while macrophages and other cells mostly accumulate glycogen in storage lysosomes without being destroyed. When morphological stages of fiber destruction are placed in a sequential series, from fibers most like normal infant muscle to those with only remnants of muscle ultrastructure, the earliest stages seen contain intact storage lysosomes. Intermediate stages exhibit ruptured lysosomal membranes and free glycogen as well as glycogen in lysosomes. Loss of myofibrillar material and loss of glycogen occur in later stages of fiber destruction.

Membrane-enclosed glycogen and mitochondria are relatively protected from the process of destruction. The electron-microscopic observations support the lysosomal rupture hypothesis and are compatible with the original proposal of Hers, that the disease results from a deficiency of a single lysosomal enzyme. Secondary changes other than muscle fiber destruction probably relate to disrupted control mechanisms and the nature of muscle as a specialized cell. At least two different mechanisms could contribute to the loss of contractile activity and myofibrillar structure.

Key words

Glycogenesis II α-glucosidase deficiency Lysosomal deficiency disease Pompe’s disease 

References

  1. Anderson WA (1972) Methods for electron microscopic localization of glycogen. In: Glick D, Rosenbaum RM (eds) Techniques of biochemical and biophysical morphology, vol 1. John Wiley and Sons, New York, pp 1–23Google Scholar
  2. Baudhuin P, Hers HG, Loeb H (1964) An electron microscopic and biochemical study of type II glycogenosis. Lab Invest 13:1139–1152PubMedGoogle Scholar
  3. Bosch EP, Munsat TL (1979) Metabolic myopathies. Med Clin North Am 63:759–782PubMedGoogle Scholar
  4. Canonico PG, Bird JWC (1970) Lysosomes in skeletal muscle tissue. Zonal centrifugation evidence for multiple cellular sources. J Cell Biol 45:321–333PubMedCrossRefGoogle Scholar
  5. Cardiff RD (1966) A histochemical and electron microscopic study of skeletal muscle in a case of Pompe’s disease (Glycogenosis II). Pediatrics 37:249–259PubMedGoogle Scholar
  6. Engel AG (1970) Acid maltase deficiency in adults: Studies in four cases of a syndrome which may mimic muscular dystrophy or other myopathies. Brain 93:599–616PubMedCrossRefGoogle Scholar
  7. Engel AG (1973) Vacuolar myopathies: Multiple etiologies and sequential structural studies. In: Pearson CM, Mostofi FK. (eds) The striated muscle. Williams and Wilkins, Baltimore, pp 301–341Google Scholar
  8. Garancis JC (1968) Type II glycogenosis. Biochemical and electron microscopic study. Am J Med 44:289–300PubMedCrossRefGoogle Scholar
  9. Griffin JL (1983a) Infantile acid maltase deficiency. II. Muscle fiber hypertrophy and the ultrastructure of end-stage fibers. Virchows Arch [Cell Pathol] 45:37–50Google Scholar
  10. Griffin JL (1983b) Infantile acid maltase deficiency. III. Ultrastructure of metachromatic material and glycogen in muscle fibers. Virchows Arch [Cell Pathol] 45:51–61CrossRefGoogle Scholar
  11. Hers HG (1963) α-glucosidase deficiency in generalized glycogen storage disease (Pompe’s Disease). Biochem J 86:11–16PubMedGoogle Scholar
  12. Hers HG (1965) Inborn lysosomal diseases. Gastroenterology 48:625–633PubMedGoogle Scholar
  13. Hers HG (1973): The concept of inborn lysosomal disease. In: Hers HG, Van Hoof F (eds) Lysosomes and storage diseases. Academic Press, New York, pp 147–172Google Scholar
  14. Hers HG, Barsy T de (1973) Type II glycogenosis (Acid maltase deficiency). In: Hers HG, Van Hoof F, (eds) Lysosomes and storage diseases. Academic Press, New York, pp 197–217Google Scholar
  15. Hudgson P, Fulthorpe JJ (1975) The pathology of type II skeletal muscle glycogenosis. A light and electron-microscopic study. J Pathol 116:139–147PubMedCrossRefGoogle Scholar
  16. Hug G (1972) Nonbilirubin genetic disorders of the liver. In: The liver, International Academy of Pathology Monograph No 13. Williams and Wilkins, Baltimore, pp 21–71Google Scholar
  17. Hug G, Schubert WK (1967) Lysosomes in type II glycogenosis. Changes during administration of extract from Aspergillus niger. J Cell Biol 35:C1-C6PubMedCrossRefGoogle Scholar
  18. Hug G, Garancis JC, Schubert WK, Kaplan S (1966) Glycogen storage disease, types II, III, VIII, and IX. A biochemical and electron microscopic analysis. Am J Dis Child 111:457–474Google Scholar
  19. Hug G, Schubert WK, Soukup S (1973) Treatment related observations in solid tissues, fibroblast cultures and amniotic fluid cells of type II glycogenosis, Hurler’s disease, and metachromatic leukodystrophy. Birth Defects 9:160–183PubMedGoogle Scholar
  20. Martin JJ, Barsy T de, Van Hoof F, Palladini G (1973) Pompe’s disease: An inborn lysosomal disorder with storage of glycogen. A study of brain and striated muscle. Acta Neuropathol (Berl) 23:229–244CrossRefGoogle Scholar
  21. Sarnat HB, Roth SI, Carroll JE, Brown BI, Dungan WT (1982) Lipid storage myopathy in infantile Pompe’s disease. Arch Neurol 39:180–183PubMedGoogle Scholar
  22. Schnabel R (1971) Zur Histochemie der mucopolysaccharidartigen Substanzen (basophile Substanzen) in der Skelettmuskulatur bei neuromuskularer Glykogenose (Typ II). Acta Neuropathol (Berl) 17:169–178CrossRefGoogle Scholar
  23. Schotland DL (1973) Ultrastructure of muscle in glycogen storage diseases. In: Pearson CM, Mostofi FK (eds) The striated muscle. Williams and Wilkins, Baltimore, pp 410–426Google Scholar
  24. Thiery JP (1967) Mise en evidence des polysaccharides sur coupes fines en microscopie électronique. J Microscopie 6:987–1018Google Scholar
  25. Wolfe HJ, Cohen RB (1968) Nonglycogen polysaccharide storage in glycogenosis type 2. Arch Pathol 86:579–584PubMedGoogle Scholar
  26. Zellweger H, Dark A, Abu Haidar GA (1955) Glycogen disease of skeletal muscle. Report of two cases and review of literature. Pediatrics 15:715–732Google Scholar

Copyright information

© Springer-Verlag 1984

Authors and Affiliations

  • Joe L. Griffin
    • 1
  1. 1.Division of Neuromuscular PathologyArmed Forces Institute of PathologyWashington, DCUSA

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