International Pompe Disease Day is observed each year on April 15, with the aim of raising public awareness about Pompe disease, a rare inherited genetic disorder.

Pompe disease is an autosomal recessive metabolic disorder caused by mutations in the gene responsible for the enzyme acid alpha-glucosidase (GAA). The resulting enzyme deficiency leads to the accumulation of glycogen in cells, particularly in the muscles.

There are infantile and late-onset forms of the disease, which typically present with muscle weakness, respiratory difficulties, and in more severe cases, heart failure.

Early recognition of the disease is crucial, as timely diagnosis significantly increases the chances of effective treatment. A simple diagnostic test using the dried blood spot technique has been introduced at the Laboratory for Metabolic Diseases at University Hospital Centre Zagreb.

Treatment involves enzyme replacement therapy, which can slow disease progression, stabilize respiratory function and mobility, and extend the patient’s lifespan.

The International Pompe Association (IPA) is a global federation of patient groups dedicated to supporting individuals affected by Pompe disease. je federacija grupa pacijenata oboljelih od Pompeove bolesti širom svijeta.

IPA was established to provide information, support, and empowerment to people living with Pompe disease and their families. The organization also plays a key role in raising global awareness of Pompe disease and advocating for research aimed at developing improved treatments and therapies.

For more information about the IPA, please visit their official website: https://worldpompe.org/ https://worldpompe.org/ .

This content was developed with the financial support of the Ministry of Health. The content of this document is the sole responsibility of the Croatian Alliance for Rare Diseases and can under no circumstances be regarded as reflecting the views of the Ministry of Health.