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acid maltase deficiency

hereditary defect in the body's ability to metabolize glycogen, resulting in a muscle disorder that is usually fatal during the first year of life. The defect responsible, absence of the enzyme alpha-1,4-glucosidase, is extremely rare, occurring in fewer than one in every 150,000 births, and is transmitted as an autosomal recessive trait. In Pompe's disease, glycogen accumulates in all body tissues, but especially in the muscles, causing enlargement of the heart, cardiac muscle failure, and breathing difficulties. Accumulation of glycogen in other tissues causes mental retardation and enlargement of the liver and spleen. Death usually results from cardiorespiratory failure. Juvenile and adult forms, with similar but milder symptoms, are also known.

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Encyclopedia Britannica, 2008. Encyclopedia Britannica Online.
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