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Open AccessArticle

Pregnancy Outcomes in Late Onset Pompe Disease

1
Lysosomal and Rare Disorders Research and Treatment Center (LDRTC), 3702 Pender Dr, Ste 170, Fairfax, VA 22030, USA
2
Division of Medical Genetics, Duke University Medical Center, 905 S. LaSalle Street, 4th Floor, Durham, NC 27710, USA
3
Lysosomal Storage Disorders Center, New York Medical College, 503 Grasslands Road, Ste 200, Valhalla, NY 10591, USA
*
Author to whom correspondence should be addressed.
Life 2020, 10(9), 194; https://doi.org/10.3390/life10090194
Received: 25 August 2020 / Revised: 3 September 2020 / Accepted: 4 September 2020 / Published: 11 September 2020
(This article belongs to the Special Issue Reproductive Health Concerns for Women)
There is limited data on pregnancy outcomes in Pompe Disease (PD) resulting from deficiency of the lysosomal enzyme acid alpha-glucosidase. Late-onset PD is characterized by progressive proximal muscle weakness and decline of respiratory function secondary to the involvement of the respiratory muscles. In a cohort of twenty-five females, the effects of both PD on the course of pregnancy and the effects of pregnancy on PD were investigated. Reproductive history, course of pregnancy, use of Enzyme replacement therapy (ERT), PD symptoms, and outcomes of each pregnancy were obtained through a questionnaire. Among 20 subjects that reported one or more pregnancies, one subject conceived while on ERT and continued therapy through two normal pregnancies with worsening of weakness during pregnancy and improvement postpartum. While fertility was not affected, pregnancy may worsen symptoms, or cause initial symptoms to arise. Complications with pregnancy or birth were not higher, except for an increase in the rate of stillbirths (3.8% compared to the national average of 0.2–0.7%). Given small sample size and possible bias of respondents being only women who have been pregnant, further data may be needed to better analyze the effects of pregnancy on PD, and the effects of ERT on pregnancy outcomes. View Full-Text
Keywords: lysosomal disorders; glycogen storage disease type II; pompe disease; LOPD; pregnancy; enzyme replacement therapy lysosomal disorders; glycogen storage disease type II; pompe disease; LOPD; pregnancy; enzyme replacement therapy
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MDPI and ACS Style

Goker-Alpan, O.; Kasturi, V.G.; Sohi, M.K.; Limgala, R.P.; Austin, S.L.; Jennelle, T.; Banikazemi, M.; Kishnani, P.S. Pregnancy Outcomes in Late Onset Pompe Disease. Life 2020, 10, 194. https://doi.org/10.3390/life10090194

AMA Style

Goker-Alpan O, Kasturi VG, Sohi MK, Limgala RP, Austin SL, Jennelle T, Banikazemi M, Kishnani PS. Pregnancy Outcomes in Late Onset Pompe Disease. Life. 2020; 10(9):194. https://doi.org/10.3390/life10090194

Chicago/Turabian Style

Goker-Alpan, Ozlem; Kasturi, Vellore G.; Sohi, Maninder K.; Limgala, Renuka P.; Austin, Stephanie L.; Jennelle, Tabitha; Banikazemi, Maryam; Kishnani, Priya S. 2020. "Pregnancy Outcomes in Late Onset Pompe Disease" Life 10, no. 9: 194. https://doi.org/10.3390/life10090194

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