type II glycogen storage disease

Last edited 08/2022

Pompe disease

  • also referred to as acid maltase deficiency (AMD) or glycogen storage disease type II (GSDII)

  • s as originally described by PJ Pompe, a Dutch pathologist, in 1932

  • is an autosomal recessive disorder caused by a deficiency of the lysosomal enzyme acid-alpha-glucosidase (GAA)

  • was the first recognized lysosomal storage disease and is the only glycogen storage disease that is also a lysosomal storage disease

  • lysosomal glycogen accumulates in many tissues with skeletal, cardiac, and smooth muscle most prominently involved

  • severity varies by age of onset, organ involvement including degree and severity of muscular involvement (skeletal, respiratory, cardiac), and rate of progression

  • has also been classified as a neuromuscular disease or metabolic myopathy (due to the presence of weakness and hypotonia)

  • incidence data are limited with reports ranging from 1 in 14,000 to 1 in 300,000 depending upon ethnicity or the geographic area studied (1)

Reference:

  • Kishnani PS et al..Pompe disease diagnosis and management guideline. Genet Med. 2006 May;8(5):267-88.
  • Kohler L, Puertollano R, Raben N. Pompe Disease: From Basic Science to Therapy. Neurotherapeutics. 2018 Oct;15(4):928-942