Leah Llorens - Acid Maltase Deficiency ( Leah Llorens )- Leah Llorens - Acid Maltase Deficiency ( Leah Llorens )- Leah Llorens - Acid Maltase Deficiency ( Leah Llorens )- Acid maltase deficiency (AMD) is an autosomal recessive disease characterized by an excessive accumulation of glycogen within lysosome-derived vacuoles in nearly all types of cells. Excessive quantities of free extralysosomal glycogen also have been described. AMD first was described by JC Pompe in Amsterdam in 1932; Pompe reported the case of a 7-month-old girl who became fatally ill from what appeared to be pneumonia. An autopsy revealed an unusually enlarged heart with normal valves. Pompe called this condition cardiomegalia glycogenica diffusa and considered it a disease analogous to von Gierke syndrome. The first article by Pompe was followed by similar reports by 2 independent authors, who described children with severe muscle weakness and cardiomegaly who died in early infancy. Their disease was attributed to an excessive deposition of glycogen in various tissues. This entity was named Pompe disease, and in 1957, GT Cori classified it as type II glycogenosis. Acid maltase deficiency is a metabolic muscle disorder, a group of diseases that interferes with the processing of food (in this case, carbohydrates) for energy General Information: background - Acid maltase deficiency (AMD), also known as Pompe disease, is a genetically inherited disease that affects muscle function.
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