Enzyme replacement therapy (ERT) with alglucosidase alfa was registered as a treatment for Pompe disease in 2006. It is as yet unknown whether ERT can be safely applied during pregnancy and lactation.A primiparous 40-year-old woman diagnosed with Pompe disease continued receiving ERT during pregnancy and lactation. Before pregnancy, she had moderate limb-girdle weakness and used nocturnal ventilation. During pregnancy, her clinical condition remained fairly stable until the 25th gestational week. Thereafter she experienced more problems with mobility and respiration. Fetal growth was normal as monitored by regular ultrasound investigations. A healthy boy was born at a gestational age of 37. weeks and 5. days by elective Cesarean section. There were no maternal complications and the child developed normally. One year after delivery the mother's physical condition was similar as prior to her pregnancy. Pharmacokinetic studies following enzyme infusion showed that alglucosidase alfa was secreted into the breast milk. Activity levels in the milk (245. nmol/ml.h) peaked at 2.5. h after the end of the infusion; which was 2. h later than in the plasma (80 μmol/ml.h). Twenty-four hours after start of the infusion, the enzyme activity in the breast milk was back to the pre-infusion level.In this case report, the continuation of treatment with alglucosidase alfa during pregnancy and lactation has been safe for the mother and the child.

Acid α-glucosidase, Enzyme replacement therapy, Lactation, Lysosomal storage disorder, Pompe disease, Pregnancy
dx.doi.org/10.1016/j.ymgme.2011.09.012, hdl.handle.net/1765/34117
Molecular Genetics and Metabolism
Erasmus MC: University Medical Center Rotterdam

de Vries, J.M, Brugma, J.D.C, Ozkan, L, Steegers, E.A.P, Reuser, A.J.J, van Doorn, P.A, & van der Ploeg, A.T. (2011). First experience with enzyme replacement therapy during pregnancy and lactation in Pompe disease. Molecular Genetics and Metabolism, 104(4), 552–555. doi:10.1016/j.ymgme.2011.09.012