Glycogen storage disease II

Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset. Early onset forms are more severe and often fatal.

Also known as: Alpha-1,4-glucosidase acid deficiency, GAA glycogen storage disease, GSD due to acid maltase deficiency, GSD type 2, GSD type II, Pompe Disease, Pompe disease, acid maltase deficiency

48 clinical trials for this condition and its sub-types.