How to describe the clinical spectrum in Pompe disease?

摘要

Pompe disease, which is also known as acid maltase deficiency and glycogen storage disease type II, derived its name from the Dutch pathologist Dr J.C. Pompe, who described it in a 7-month-old girl in 1932. In the same year, Dr Putschar presented an equally detailed report on a similar case. Both patients died in their first year of life due to generalized glycogen storage-later named glycogen storage disease type II - that affected mainly heart and skeletal muscle function. The underlying lysosomal a-glucosidase deficiency was discovered in 1963. Originally, Pompe disease was thought to be a disease of early infancy leading to death in the first year of life. However, the acid a-glucosidase deficiency turned out to occur in different degrees, with the first symptoms manifesting at various ages, and the disease progressing at various speeds [Engel et al., 1973, 2004; Hirschhorn and Reuser, 2001].