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References OMIM Gene GeneReviews HGMD HGNC
last update : 08-03-2011
Symbol GSD2
Location 17q25.2-q25.3
Name glycogen storage disease, type II
Other name(s)
  • Pompe disease
  • acid alpha-glucosidase deficiency
  • Corresponding gene GAA
    Other symbol(s) GAA
    Main clinical features
  • infantile-onset Pompe disease is characterized by hypertrophic cardiomyopathy and profound generalized weakness presenting in the first few months of life, with rapid progression and death usually occurring by one year of age
  • late-onset Pompe disease is characterized by onset of symptoms after one year of age, less severe or absence of cardiac involvement and slower progression, with symptoms primarily related to progressive dysfunction of skeletal muscles and respiratory muscle involvement
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/lysosomal
    Type disease
    Gene product
    Name glucosidase,alpha,acid (GAA)
    Remark(s) prototypic lysosomal storage disease