Glycogen Storage Disease Type II

**Definition:** 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)

**Tree numbers:** - C10.228.140.163.100.435.340 - C16.320.565.189.435.340 - C16.320.565.202.449.500 - C16.320.565.595.554.340 - C18.452.132.100.435.340 - C18.452.648.189.435.340 - C18.452.648.202.449.500 - C18.452.648.595.554.340

**Synonyms:** - Acid Alpha-Glucosidase Deficiency - Acid Maltase Deficiency Disease - Deficiency Disease, Acid Maltase - Deficiency Disease, Lysosomal alpha-1,4-Glucosidase - GAA Deficiency - Generalized Glycogenosis - Glycogen Storage Disease II - Glycogen Storage Disease Type 2 - Glycogenosis 2 - Glycogenosis Type II - GSD II - Lysosomal alpha-1,4-Glucosidase Deficiency Disease - Pompe Disease - Pompe's Disease - Deficiency of Alpha-Glucosidase - GSD2