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Cardiomyopathy, mental retardation, and autophagic vacuolar myopathy. Abnormal MRI findings in the head.

Abstract
A 21-year-old man with childhood-onset mental retardation, non-obstructive hypertrophic cardiomyopathy, and vacuolar myopathy is presented. A histopathological study of biopsied skeletal muscle showed lysosomal glycogen storage mimicking acid maltase deficiency, but biochemical analysis showed normal acid alpha-glucosidase activity. Glycogenosomes were also recognized in endothelial cells on electronmicroscopic examination of biopsied skeletal muscle. Magnetic resonance imaging (MRI) findings in the head revealed the involvement of the central nervous system. This is a new type of lysosomal glycogen storage disease with multisystemic involvement. The specific biochemical defect in this disorder remains to be elucidated.
AuthorsN Kashio, F Usuki, T Akamine, S Nakagawa, I Higuchi, K Nakahara, A Okada, M Osame, F Murata
JournalJournal of the neurological sciences (J Neurol Sci) Vol. 105 Issue 1 Pg. 1-5 (Sep 1991) ISSN: 0022-510X [Print] Netherlands
PMID1795162 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Glycogen Debranching Enzyme System
  • Glycogen
  • alpha-Glucosidases
Topics
  • Adult
  • Autophagy
  • Brain (pathology)
  • Cardiomyopathies (blood, enzymology, pathology)
  • Glycogen (analysis)
  • Glycogen Debranching Enzyme System (metabolism)
  • Humans
  • Intellectual Disability (blood, enzymology, pathology)
  • Magnetic Resonance Imaging
  • Male
  • Muscles (enzymology, pathology, ultrastructure)
  • Muscular Diseases (blood, enzymology, pathology)
  • Syndrome
  • Vacuoles (ultrastructure)
  • alpha-Glucosidases (metabolism)

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