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Glycogen storage disease due to acid maltase deficiency

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.

ORPHA:365

  • 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, Neonatal, Infancy, Childhood, Adolescent, Adult
  • ICD-10: E74.0
  • OMIM: 232300
  • UMLS: C0017921
  • MeSH: D006009
  • GARD: 5714
  • MedDRA: 10053185

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