pregnancy

Pompe Disease and Pregnancy

Pompe disease is a rare disorder caused by mutations in a gene called GAA, which provides instructions for making an important enzyme called acid alpha-glucosidase (also known as acid maltase). This enzyme is responsible for breaking down a sugar molecule called glycogen to provide energy to…

Start ERT in Symptomatic Late-onset Pompe Patients, Study Says

Patients with late-onset Pompe disease (LOPD) should be followed regularly and start on enzyme replacement therapy (ERT) if they develop symptoms, according to an analysis of available guidelines. The study, “Comparison of recent pivotal recommendations for the diagnosis and treatment of late-onset Pompe disease using…