Enzyme replacement therapy during pregnancy and breastfeeding in late-onset Pompe disease
Magdalena Bachmann, David Kasper, Sabine Scholl-Bürgi, Julian Margreitter, Alexander Höller, Wolfgang Löscher, Daniela Karall, Thomas Zöggeler · 2025
Read Enzyme replacement therapy during pregnancy and breastfeeding in late-onset Pompe disease by Magdalena Bachmann, David Kasper, Sabine Scholl-Bürgi, Julian Margreitter, Alexander Höller, Wolfgang Löscher, Daniela Karall, Thomas Zöggeler (2025) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-12751353.txt.
Description
Magdalena Bachmann and co-authors present a 2025 case series on Pompe disease in pregnancy. Pompe disease is an inherited storage disorder. A missing enzyme lets glycogen build up in cell compartments, weakening heart and muscle. Enzyme replacement therapy has been available since 2006. Its safety in pregnancy and breastfeeding is still a worry, since data are scarce. Past case reports hint that it is safe.
The series gathers five pregnancies in three women with late-onset disease. All stayed on the therapy through pregnancy and breastfeeding. Enzyme levels were checked in two of the children during nursing. Families and doctors get real cases where a registry is too small. Rare disease care often advances by pooled cases like these. The series supports continuing therapy, with the caution that five pregnancies cannot settle safety alone.
Catalog record
| CREATOR | Magdalena Bachmann, David Kasper, Sabine Scholl-Bürgi, Julian Margreitter, Alexander Höller, Wolfgang Löscher, Daniela Karall, Thomas Zöggeler |
|---|---|
| YEAR | 2025 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 20 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |