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Skeletal Muscle Weakness and Dysphagia Caused by Acid Maltase Deficiency: Nutritional Consequences of Coincident Celiac Sprue
Author(s) -
King Timothy S.,
Anderson Janice R.,
Wraight E. Philip,
Hunter John O.,
Cox Timothy M.
Publication year - 1997
Publication title -
journal of parenteral and enteral nutrition
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.935
H-Index - 98
eISSN - 1941-2444
pISSN - 0148-6071
DOI - 10.1177/014860719702100146
Subject(s) - medicine , dysphagia , gastroenterology , weakness , sprue , muscle weakness , esophagus , surgery , biology , mold , genetics
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 Nutrition 21: 046–049, 1997)