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 forms: infantile-onset Pompe disease, with rapid cardiomyopathy and generalized hypotonia, and late-onset Pompe disease, with progressive proximal muscle weakness and later respiratory problems.

Diagnosis relies on clinical examination supported by laboratory tests showing low GAA activity in dried blood spots or lymphocytes and genetic testing for GAA mutations. Newborn screening programs can identify affected infants early. Imaging and muscle biopsy may aid in assessing disease extent in some cases.

Treatment consists of enzyme replacement therapy using recombinant human GAA, such as alglucosidase alfa, which can improve survival and motor outcomes, particularly when started early. Ongoing management includes respiratory support, physical therapy, and dietary planning; there is no cure. Supportive care aims to optimize mobility, cardiac function, and breathing.

Prognosis varies by onset; infants who receive therapy early can survive beyond infancy with improved development, while late-onset forms progress more slowly and vary in severity. The condition was first described by Johannes Cassianus Pompe in 1932, and advances in newborn screening and enzyme therapies have changed its clinical trajectory.