Background: A 30-year-old woman with celiac sprue had progressive weight loss, myalgia, limb-girdle weakness, and dysphagia. Methods and Results: Barium swallow showed an atonic esophagus, and scintigraphic study confirmed esophageal dysmotility. Skeletal muscle biopsy showed characteristic appearances of acid maltase deficiency, which was confirmed by a reduction of leukocyte acid α-glucosidase activity. Conclusions: Nutritional factors may have accelerated the presentation of the lysosomal storage disorder. This is the first reported case of dysphagia caused by esophageal motor weakness in acid maltase deficiency. (Journal of Parenteral and Enteral Nutrition21:046-049, 1997)
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