Pompe disease

Last edited 08/2023 and last reviewed 10/2023

Pompe disease

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