On April 15, the International Pompe Disease Day was celebrated with the aim of informing and raising awareness in society about this rare pathology of genetic origin.
Pompe disease, also known as glycogenosis type II, is a metabolic disorder that causes muscle weakness due to a mutation of the CAA gene that codes for the synthesis of the enzyme acid maltase, which is responsible for breaking down glycogen into glucose units. When the activity of this enzyme is inadequate, glycogen accumulates in skeletal, cardiac and respiratory muscle cells, mainly.
We invite you to watch our webinar and learn more about the genetic basis of this disease, as well as its diagnosis and treatment.