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Placenta Pathologies in Two Patients With Glycogen Storage Disease Type Ia and Preeclampsia
V Laufs1, A Hasenburg1, M A Busch2
1Clinic for Obstetrics and Women's Health University Medical Center of the Johannes Gutenberg-University Mainz Mainz Germany.
JIMD Reports
|June 16, 2025
Summary
Pregnancies in women with glycogen storage disease type Ia (GSD Ia) can lead to preeclampsia and small newborns. Placental abnormalities were observed, warranting further investigation into GSD Ia's impact on pregnancy.
Area of Science:
- Obstetrics and Gynecology
- Maternal-Fetal Medicine
- Genetics and Rare Diseases
Background:
- Glycogen storage disease type Ia (GSD Ia) is a rare metabolic disorder.
- Limited data exists on pregnancy outcomes and placental characteristics in GSD Ia patients.
Purpose of the Study:
- To describe pregnancy and placental findings in women with GSD Ia.
- To highlight potential complications and associated placental abnormalities.
Main Methods:
- Case report of two primipara diagnosed with GSD Ia.
- Clinical observation of pregnancy course, delivery, and neonatal outcomes.
- Sonomorphological and macroscopical examination of placentas.
Main Results:
- Both patients developed preeclampsia during pregnancy.
- Newborns from both pregnancies were small for gestational age.
- Placentas exhibited sonomorphological and macroscopical abnormalities.
Conclusions:
- Pregnancy in GSD Ia may be associated with increased risk of preeclampsia and fetal growth restriction.
- Placental abnormalities are present in GSD Ia pregnancies.
- Further research is needed to identify disease-specific histological placental features in GSD Ia.
Keywords:
GSD Iacarbohydrate storage disorderfetal growth restrictionhistologic featuresinherited metabolic diseaseplacenta abnormalitiespreeclampsiasmall for gestational ageMore Related Videos
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