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Glycogen storage disease due to acid maltase deficiency

Synonym(s) Alpha-1,4-glucosidase acid deficiency
GSD due to acid maltase deficiency
GSD type 2
GSD type II
Glycogen storage disease type 2
Glycogen storage disease type II
Glycogenosis due to acid maltase deficiency
Glycogenosis type 2
Glycogenosis type II
Pompe disease
Prevalence Unknown
Inheritance Autosomal recessive
Age of onset Antenatal
  • E74.0
  • C0017921
  • D006009
  • 10053185


Disease 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 (see these terms). Early onset forms are more severe and often fatal.

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