Neurol. praxi. 2009;10(1):44-48

Pompe disease - pathogenesis, clinical features, diagnosis and enzyme replacement therapy

doc. MUDr. Peter Špalek PhD

Neurologická klinika SZU a FNsP Bratislava-Ružinov

Pompe disease, or glycogen storage disease type II, is a rare autosomal recessive disorder caused by mutations in the gene that encodes

for α-glucosidase. Presentation in infancy is associated with severe muscle weakness, cardiomyopathy and respiratory failure. Juvenileand

adult-onset typically present with proximal muscle weakness and are associated with exertional dyspnoe or respiratory insufficiency.

Determination of α-glucosidase activity in a dried blood spot provides a rapid and reliable diagnostic method for Pompe disease,

especially as the initial screening test. Confirmatory testing should be performed by measuring of α-glucosidase activity in cultures of

fibroblasts or muscle tissue, or by genetic testing. Treatment, until recently, was only supportive, and infants with Pompe disease usually

died within the first year of life. The recent development of recombinant α-glucosidase has dramatically improved the life expectancy

and quality of life of infantile-onset disease with improvements of muscle motor and respiratory function in juvenile- and adult-onset

cases. This review focuses on the pathogenesis, presentation, diagnosis and enzyme replacement therapy for Pompe disease.

Keywords: Pompe disease, α-glucosidase deficiency, diagnosis, recombinant α-glucosidase

Published: March 1, 2009  Show citation