Next Article in Journal
The Effects of Metformin on the Gut Microbiota of Patients with Type 2 Diabetes: A Two-Center, Quasi-Experimental Study
Next Article in Special Issue
Markers of Endothelial Injury and Dysfunction in Early- and Late-Onset Preeclampsia
Previous Article in Journal
Effect of Astaxanthin on the Expression and Activity of Aquaporin-3 in Skin in an In-Vitro Study
Previous Article in Special Issue
Validating the Use of Corifollitropin Alfa in Progestin-Primed Ovarian Stimulation Protocol on Normal and High Responders by Comparing with Conventional Antagonist Protocol: A Retrospective Study
Open AccessArticle

Pregnancy Outcomes in Late Onset Pompe Disease

Lysosomal and Rare Disorders Research and Treatment Center (LDRTC), 3702 Pender Dr, Ste 170, Fairfax, VA 22030, USA
Division of Medical Genetics, Duke University Medical Center, 905 S. LaSalle Street, 4th Floor, Durham, NC 27710, USA
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;
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
Show Figures

Figure 1

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.

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.

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.

Find Other Styles
Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Article Access Map by Country/Region

Search more from Scilit
Back to TopTop