Juvenile polysaccharidosis with cardioskeletal myopathy

G. M. Greene, D. C. Weldon, V. J. Ferrans, J. P. Cheatham, Rodney D McComb, B. I. Brown, Carl Herbert Gumbiner, J. A. Vanderhoof, P. G. Itkin, B. M. McManus

Research output: Contribution to journalArticle

26 Citations (Scopus)

Abstract

Polysaccharidoses with ultrastructural features reminiscent of glycogenosis type IV, but without enzymatic correlation, have been observed in several adolescent and adult patients. Little is known of the clinical, pathologic, or biochemical nature of these disorders. We describe a patient with ultrastructural characteristics consistent with glycogenosis type IV, but with normal brancher enzyme activity in dermal fibroblasts and cardiac muscle. During life and at autopsy, electron microscopy revealed amylopectin-like polysaccharide deposits present in a wide variety of tissues. The polysaccharidosis of our patient and similar patients may be a variant of glycogenosis type IV with a yet to be defined enzymatic defect.

Original languageEnglish (US)
Pages (from-to)977-982
Number of pages6
JournalArchives of Pathology and Laboratory Medicine
Volume111
Issue number10
StatePublished - Jan 1 1987

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Glycogen Storage Disease Type IV
Muscular Diseases
Amylopectin
Polysaccharides
Autopsy
Myocardium
Electron Microscopy
Fibroblasts
Skin
Enzymes

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Medical Laboratory Technology

Cite this

Greene, G. M., Weldon, D. C., Ferrans, V. J., Cheatham, J. P., McComb, R. D., Brown, B. I., ... McManus, B. M. (1987). Juvenile polysaccharidosis with cardioskeletal myopathy. Archives of Pathology and Laboratory Medicine, 111(10), 977-982.

Juvenile polysaccharidosis with cardioskeletal myopathy. / Greene, G. M.; Weldon, D. C.; Ferrans, V. J.; Cheatham, J. P.; McComb, Rodney D; Brown, B. I.; Gumbiner, Carl Herbert; Vanderhoof, J. A.; Itkin, P. G.; McManus, B. M.

In: Archives of Pathology and Laboratory Medicine, Vol. 111, No. 10, 01.01.1987, p. 977-982.

Research output: Contribution to journalArticle

Greene, GM, Weldon, DC, Ferrans, VJ, Cheatham, JP, McComb, RD, Brown, BI, Gumbiner, CH, Vanderhoof, JA, Itkin, PG & McManus, BM 1987, 'Juvenile polysaccharidosis with cardioskeletal myopathy', Archives of Pathology and Laboratory Medicine, vol. 111, no. 10, pp. 977-982.
Greene GM, Weldon DC, Ferrans VJ, Cheatham JP, McComb RD, Brown BI et al. Juvenile polysaccharidosis with cardioskeletal myopathy. Archives of Pathology and Laboratory Medicine. 1987 Jan 1;111(10):977-982.
Greene, G. M. ; Weldon, D. C. ; Ferrans, V. J. ; Cheatham, J. P. ; McComb, Rodney D ; Brown, B. I. ; Gumbiner, Carl Herbert ; Vanderhoof, J. A. ; Itkin, P. G. ; McManus, B. M. / Juvenile polysaccharidosis with cardioskeletal myopathy. In: Archives of Pathology and Laboratory Medicine. 1987 ; Vol. 111, No. 10. pp. 977-982.
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