Adult‐onset acid maltase deficiency: A postmortem study

Salvatore Dimauro, Lawrence Z. Stern, Mark Mehler, Raymond B. Nagle, Claire Payne

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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 & Nerve
Volume1
Issue number1
DOIs
Publication statusPublished - Jan 1 1978
Externally publishedYes

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ASJC Scopus subject areas

  • Physiology
  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Physiology (medical)

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