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Glycogen storage disease due to LAMP-2 deficiency

Disease definition

Glycogen storage disease due to LAMP-2 (Lysosomal-Associated Membrane Protein 2) deficiency is a lysosomal glycogen storage disease characterised by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit.


Classification level: Disorder
  • Synonym(s):
    • Danon disease
    • GSD due to LAMP-2 deficiency
    • Glycogenosis due to LAMP-2 deficiency
    • Lysosomal glycogen storage disease with normal acid maltase activity
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked dominant 
  • Age of onset: Childhood
  • ICD-10: E74.0
  • ICD-11: 5C51.3
  • OMIM: 300257
  • UMLS: C0878677
  • MeSH: -
  • GARD: 9730
  • MedDRA: -

Detailed information

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Genetic Testing

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