Adult acid maltase deficiency
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Updated: Aug 17, 2026

Using Multi-fluorinated Bile Acids and In Vivo Magnetic Resonance Imaging to Measure Bile Acid Transport
Published on: November 27, 2016
R J Barohn1, A L McVey, S DiMauro
1Department of Medicine (Neurology), University of Texas Health Science Center, San Antonio 78210.
Abstract:
A 30-year-old man was referred for neurologic evaluation because of elevated creatine kinase. He had noted symptoms of proximal arm and distal leg weakness for several years, and, on examination, he had weakness in a scapuloperoneal distribution. An electromyogram showed myotonic discharges in the paraspinous muscles, and a muscle biopsy revealed severe vacuolar myopathy. Biochemical analysis of muscle showed acid maltase deficiency. The patient's only brother had childhood-onset acid maltase deficiency and died of respiratory failure at age 27. Acid maltase deficiency may have heterogeneous presentations within a family, and adult AMD can present as a scapuloperoneal neuromuscular syndrome.
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