Adult-onset acid maltase deficiency: a postmortem study.

S. DiMauro, L. Z. Stern, M. Mehler, Raymond B Nagle, C. Payne

Research output: Contribution to journalArticle

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Abstract

In a postmortem study of a patient with adult-onset acid maltase deficiency (AMD), morphological abnormalities were confined to skeletal muscle and consisted of a vacuolar myopathy. Acid maltase activity, however, was approximately 6% of normal in muscle, liver, and brain, and 3% of normal in heart. Kinetic characteristics, and inhibition by antibodies and Zn++, showed that the residual activity was "authentic" acid maltase. Neutral maltase activity was normal in muscle and liver, but decreased in brain (55% of normal) and heart (19% of normal). Although the relative decrease of acid maltase was similar in different tissues, absolute residual activity was lowest in skeletal muscle: this may explain the selective involvement of this tissue in late-onset AMD.

Original languageEnglish (US)
Pages (from-to)27-36
Number of pages10
JournalMuscle and Nerve
Volume1
Issue number1
StatePublished - Jan 1978

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Glycogen Storage Disease Type II
alpha-Glucosidases
Skeletal Muscle
Muscles
Liver
Brain
Antibodies

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Cite this

DiMauro, S., Stern, L. Z., Mehler, M., Nagle, R. B., & Payne, C. (1978). Adult-onset acid maltase deficiency: a postmortem study. Muscle and Nerve, 1(1), 27-36.

Adult-onset acid maltase deficiency : a postmortem study. / DiMauro, S.; Stern, L. Z.; Mehler, M.; Nagle, Raymond B; Payne, C.

In: Muscle and Nerve, Vol. 1, No. 1, 01.1978, p. 27-36.

Research output: Contribution to journalArticle

DiMauro, S, Stern, LZ, Mehler, M, Nagle, RB & Payne, C 1978, 'Adult-onset acid maltase deficiency: a postmortem study.', Muscle and Nerve, vol. 1, no. 1, pp. 27-36.
DiMauro S, Stern LZ, Mehler M, Nagle RB, Payne C. Adult-onset acid maltase deficiency: a postmortem study. Muscle and Nerve. 1978 Jan;1(1):27-36.
DiMauro, S. ; Stern, L. Z. ; Mehler, M. ; Nagle, Raymond B ; Payne, C. / Adult-onset acid maltase deficiency : a postmortem study. In: Muscle and Nerve. 1978 ; Vol. 1, No. 1. pp. 27-36.
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