Pregnancy during enzyme replacement therapy with alglucosidase alfa over a 14‐year period in late‐onset Pompe disease

Abstract

We report a female patient who developed Pompe disease at 15 years old and received enzyme replacement therapy (ERT) from 25 years old. After 14 years of treatment, she became pregnant. ERT was suspended during the organogenic period as a precaution and restarted at 15 weeks' gestation. During the pregnancy, there were no complications or respiratory problems, but transient muscle weakness was observed during the third trimester. The patient gave birth by vaginal delivery at 39 weeks' gestation. Eight months postpartum, her muscle weakness had recovered slowly, and the patient was able to stand up without help.