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Glycogen storage disease due to acid maltase deficiency, late-onset

Disease definition

Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes.

ORPHA:420429

  • Synonym(s):
    • Alpha-1,4-glucosidase acid deficiency, late onset
    • GSD due to acid maltase deficiency, late onset
    • GSD type 2, late onset
    • GSD type II, late onset
    • Glycogen storage disease type 2, late onset
    • Glycogen storage disease type II, late onset
    • Glycogenosis type 2, late onset
    • Glycogenosis type II, late onset
    • Pompe disease, late onset
  • Prevalence: -
  • Inheritance: Autosomal recessive 
  • Age of onset: Adolescent, Adult
  • ICD-10: E74.0
  • OMIM: -
  • UMLS: C3888925
  • MeSH: -
  • GARD: -
  • MedDRA: -

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