Adult onset acid maltase deficiency. Morphologic and biochemical abnormalities reproduced in cultured muscle

V. Askanas, W. K. Engel, S. DiMauro, B. R. Brooks, Mark F. Mehler

Research output: Contribution to journalArticle

37 Citations (Scopus)

Abstract

We established muscle tissue cultures from biopsy of a patient with adult onset acid maltase deficiency. Morphologically and biochemically, the newly grown fibers of the cultures muscle showed the same abnormalities as those of the biopsied muscle. Light microscopy showed multiple vacuoles filled with acid phosphatase positive material; on ultrastructural examination there was abnormal accumulation of glycogen in membrane bound sacs (secondary lysosomes), some of which also contained dark membranous or homogeneous material. Acid maltase (pH 4.0), a lysosomal enzyme, was undetectable in either cultured or biopsied muscle by maltose hydrolysis, whereas acid phosphatase, also a lysosomal enzyme, was increased in both sources of muscle cells. Cultured muscle fibers demonstrate the same morphologic and biochemical abnormalities characteristic of biopsied muscle, supporting the concept of a biochemically distinct primary myopathy in man.

Original languageEnglish (US)
Pages (from-to)573-578
Number of pages6
JournalNew England Journal of Medicine
Volume294
Issue number11
StatePublished - 1976
Externally publishedYes

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Glycogen Storage Disease Type II
Muscles
Acid Phosphatase
alpha-Glucosidases
Maltose
Muscular Diseases
Enzymes
Vacuoles
Lysosomes
Glycogen
Muscle Cells
Microscopy
Hydrolysis
Biopsy
Light
Membranes

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Adult onset acid maltase deficiency. Morphologic and biochemical abnormalities reproduced in cultured muscle. / Askanas, V.; Engel, W. K.; DiMauro, S.; Brooks, B. R.; Mehler, Mark F.

In: New England Journal of Medicine, Vol. 294, No. 11, 1976, p. 573-578.

Research output: Contribution to journalArticle

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