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
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