Glycogen Storage Disease Type II


Acid Alpha Glucosidase Deficiency

Acid Alpha-Glucosidase Deficiencies

Acid Alpha-Glucosidase Deficiency

Acid Maltase Deficiencies

Acid Maltase Deficiency

Acid Maltase Deficiency Disease

Adult Glycogen Storage Disease Type II

Alpha 1,4 Glucosidase Deficiency

Alpha-1,4-Glucosidase Deficiencies

Alpha-1,4-Glucosidase Deficiency

Alpha-Glucosidase Deficiencies

Alpha-Glucosidase Deficiencies, Acid

Alpha-Glucosidase Deficiency

Alpha-Glucosidase Deficiency, Acid

Deficiencies, Acid Alpha-Glucosidase

Deficiencies, Acid Maltase

Deficiencies, Alpha-1,4-Glucosidase

Deficiencies, GAA

Deficiency Disease, Acid Maltase

Deficiency Disease, Lysosomal alpha-1,4-Glucosidase

Deficiency of Alpha Glucosidase

Deficiency of Alpha-Glucosidase

Deficiency, Acid Alpha-Glucosidase

Deficiency, Acid Maltase

Deficiency, Alpha-1,4-Glucosidase

Deficiency, GAA

Disease, Pompe

Disease, Pompe's

GAA Deficiencies

GAA Deficiency




Generalized Glycogenoses

Generalized Glycogenosis

Glycogen Storage Disease II

Glycogen Storage Disease Type 2

Glycogen Storage Disease Type II, Adult

Glycogen Storage Disease Type II, Infantile

Glycogen Storage Disease Type II, Juvenile

Glycogenoses, Generalized

Glycogenosis 2

Glycogenosis Type II

Glycogenosis, Generalized

Infantile Glycogen Storage Disease Type II

Juvenile Glycogen Storage Disease Type II

Lysosomal alpha 1,4 Glucosidase Deficiency Disease

Lysosomal alpha-1,4-Glucosidase Deficiency Disease

Maltase Deficiencies, Acid

Pompe Disease

Pompe's Disease

Pompes Disease

Type II, Glycogenosis

Type IIs, Glycogenosis

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)