Alpha-Glucosidase Deficiency, Acid

An autosomal recessively inherited Glycogen Storage Disease caused by Glucan 1,4-alpha-Glucosidase deficiency. Large amounts of GLYCOGEN accumulate in the Lysosomes of Skeletal Muscle (Muscle, Skeletal); Heart; LIVER; SPINAL CORD; and Brain. Three Forms have been described: infantile, Childhood, and Adult. The infantile form is fatal in infancy and presents with Hypotonia and a Hypertrophic Cardiomyopathy (Cardiomyopathy, Hypertrophic). The Childhood form usually presents in the second year of Life with proximal weakness and respiratory symptoms. The Adult form consists of a slowly progressive proximal Myopathy. (From Muscle Nerve 1995;3:S61-9; Menkes, Textbook of Child Neurology, 5th ed, pp73-4)