/glycogen storage disease II

glycogen storage disease II

Rare Disease

MONDO:0009290

Also Known As

Alpha-1,4-glucosidase acid deficiencyGAA glycogen storage diseaseGSD due to acid maltase deficiencyGSD type 2GSD type IIPompe DiseasePompe diseasePompe's diseaseacid maltase deficiencydeficiency of glucoamylasedeficiency of maltasegeneralised glycogenosisgeneralized glycogenosisglycogen storage disease IIglycogen storage disease caused by mutation in GAAglycogen storage disease type 2glycogen storage disease type IIglycogen storage disease, type IIglycogenosis due to acid maltase deficiencyglycogenosis type 2glycogenosis type IIglycogenosis, type 2lysosomal alpha-1,4-glucosidase deficiencyAglucosidase alfaAlpha-1,4-glucosidase deficiencyCardiomegalia Glycogenica diffusaGAA deficiencyGSD 2GSD IIGSD2acid maltase deficiency diseasedeficiency of alpha-glucosidasedeficiency of lysosomal alpha-glucosidaseglucosidase acid-1,4-alpha deficiencyglycogen storage disease 2glycogen storage disease due to acid maltase deficiencyglycogenosis, generalized, Cardiac form

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.