Glycogen storage disease II
Glycogen storage disease II
Definition
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 acid maltase deficiency, Alpha-1,4-glucosidase acid deficiency, GAA glycogen storage disease, generalised glycogenosis, glycogen storage disease caused by mutation in GAA, glycogen storage disease II, glycogen storage disease type 2, glycogen storage disease type II, glycogenosis due to acid maltase deficiency, glycogenosis type 2, glycogenosis type II, GSD due to acid maltase deficiency, GSD type 2, GSD type II, Pompe Disease — per MONDO