This Day in History: 2025-04-15

International Pompe Day.

The goal of International Pompe Day is to foster international awareness of Pompe Disease and the slogan for this day is “Together We Are Strong”.

Pompe disease, also termed glycogen storage disease type II or acid maltase deficiency, is an inherited lysosomal storage disorder with an estimated frequency of 1 in 40,000 births. The disease is characterized by a total or partial deficiency of the enzyme acid α-glucosidase. Deficiency of acid α-glucosidase leads to accumulation of lysosomal glycogen in virtually all cells of the body, but the effects are most notable in muscle. Pompe disease is a spectrum disease with classic infantile onset at the severe end of the spectrum and the late onset at the other end of the spectrum. Disease symptoms may include: heart involvement; breathing problems; difficulty walking; inability to walk or stand; inability to raise the arms; muscle pain; fatigue; and scoliosis. Pompe disease causes severe disability and can be fatal when not treated in time.