Placenta Pathologies in Two Patients With Glycogen Storage Disease Type Ia and Preeclampsia

V Laufs; A Hasenburg; M A Busch; F Lang; D Macchiella; E Mildenberger; L Seidmann; J B Hennermann

doi:10.1002/jmd2.70025

Placenta Pathologies in Two Patients With Glycogen Storage Disease Type Ia and Preeclampsia

JIMD Rep. 2025 Jun 12;66(4):e70025. doi: 10.1002/jmd2.70025. eCollection 2025 Jul.

Authors

V Laufs¹, A Hasenburg¹, M A Busch², F Lang³, D Macchiella¹, E Mildenberger², L Seidmann⁴, J B Hennermann³

Affiliations

¹ Clinic for Obstetrics and Women's Health University Medical Center of the Johannes Gutenberg-University Mainz Mainz Germany.
² Division of Neonatology Center for Pediatric and Adolescent Medicine, University Medical Center of the Johannes Gutenberg-University Mainz Mainz Germany.
³ Villa Metabolica Center for Pediatric and Adolescent Medicine, University Medical Center of the Johannes Gutenberg-University Mainz Mainz Germany.
⁴ Institute of Pathology University Medical Center of the Johannes Gutenberg-University Mainz Mainz Germany.

Abstract

Little is known about pregnancies and placental changes in women with glycogen storage disease type Ia (GSD Ia). We report on two primipara with GSD Ia who both developed preeclampsia and whose newborns were small for gestational age. Both placentas showed sonomorphological and macroscopical abnormalities. Disease-specific histological features could not be identified, which should prompt further research.

Keywords: GSD Ia; carbohydrate storage disorder; fetal growth restriction; histologic features; inherited metabolic disease; placenta abnormalities; preeclampsia; small for gestational age.