Pompesairaus
Pompesairaus, commonly referred to in English as Pompe disease, is a rare inherited metabolic disorder caused by deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). The enzyme deficiency leads to the accumulation of glycogen within lysosomes of muscle cells, especially in skeletal and cardiac muscles.
The disease is caused by autosomal recessive mutations in the GAA gene. It presents mainly in two
Diagnosis relies on clinical examination supported by laboratory tests showing low GAA activity in dried blood
Treatment consists of enzyme replacement therapy using recombinant human GAA, such as alglucosidase alfa, which can
Prognosis varies by onset; infants who receive therapy early can survive beyond infancy with improved development,