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 language | English (US) |
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Pages (from-to) | 27-36 |
Number of pages | 10 |
Journal | Muscle & Nerve |
Volume | 1 |
Issue number | 1 |
DOIs | |
State | Published - 1978 |
Externally published | Yes |
ASJC Scopus subject areas
- Physiology
- Clinical Neurology
- Cellular and Molecular Neuroscience
- Physiology (medical)