Glycogen Storage Disease in Skeletal Muscle Morphological, Ultrastructural and Biochemical Aspects in 10 Cases

  • Ana Cabello
  • T. Benlloch
  • O. Franch
  • J. F. Feliú
  • J. R. Ricoy
Part of the Acta Neuropathologica Supplementum book series (NEUROPATHOLOGIC, volume 7)

Summary

We analyzed clinical, histological and biochemical findings in 10 patients with glycogen storage disease in skeletal muscle. Four patients were deficient in acid-alpha-glucosidase (Glycogenosis type II), three of them with late infantile onset and one patient adult form. Five patients, two of them siblings, were deficient in myophosphorylase (glycogenosis type V, McArdle’s disease). One patient was a newborn with phosphofruc-tokinase deficiency (glycogenosis type VII, Tarui’s disease). Of the study of our cases we would like to outline the following features: in the glycogenosis type II the deposit is fundamentally intraly-sosomal in the late infantile form, storage of mucopolysaccharides and deposit in interstitial fibroblasts were found, while in the adult form glycogen storage is minimal. In the glycogenosis type V the storage of glycogen is free and of a small amount. In two patients we have observed enzymatic activity in regenerating fibres. In glycogenosis type VII the storage is free, of considerable quantity and the interstitial cells are also affected; no storage is observed in the satellite cells.

Key words

glycogen storage skeletal muscle glycogenosis biochemistry ultrastructure 

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Copyright information

© Springer-Verlag 1981

Authors and Affiliations

  • Ana Cabello
    • 1
    • 2
  • T. Benlloch
    • 1
  • O. Franch
    • 1
  • J. F. Feliú
    • 1
  • J. R. Ricoy
    • 1
  1. 1.Departments of Pathology (Neuropathology) and Biochemistry, School of Medicine“1o de Octubre” Hospital and Autonomous UniversityMadridSpain
  2. 2.Neuropathology Section, Dept. of PathologyCiudad Sanitaria 1o de OctubreMadrid 26Spain

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