Successful multidisciplinary management of pregnancy in a woman with glycogen storage disease type IIIA

Glycogen Storage Disease Type IIIA (GSD IIIA) is a rare autosomal recessive metabolic disorder affecting the liver, skeletal muscle, and heart. The physiological changes of pregnancy exacerbate the underlying metabolic disturbances of this condition, complicating maternal and fetal outcomes. We present the case of a 22-year-old woman with GSD IIIA who experienced a successful pregnancy and delivery through comprehensive multidisciplinary management, including metabolic, obstetric, dietary, anaesthetic, and neonatal care. This case contributes to the limited but growing body of literature on pregnancy in GSD IIIA and highlights the critical importance of personalized, team-based care in rare metabolic diseases.

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Publication Details

Journal
Obstetric Medicine
Published
2026-03-17
DOI
https://doi.org/10.1177/1753495x261431284
Primary Topic
Glycogen Storage Diseases and Myoclonus
Type
article
Field-Weighted Citation Impact
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article

Successful multidisciplinary management of pregnancy in a woman with glycogen storage disease type IIIA

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Obstetric Medicine
Glycogen Storage Diseases and Myoclonus
article

Successful multidisciplinary management of pregnancy in a woman with glycogen storage disease type IIIA

Claire McCarthy, Mairead O’Riordan, James J. O’Byrne, Loai Shakerdi, Sarah Connellan, Halima P. Mshelia, C. Newman Thacker, Abrar Al Zaher, Rawia Debo
article en

Abstract

Glycogen Storage Disease Type IIIA (GSD IIIA) is a rare autosomal recessive metabolic disorder affecting the liver, skeletal muscle, and heart. The physiological changes of pregnancy exacerbate the underlying metabolic disturbances of this condition, complicating maternal and fetal outcomes. We present the case of a 22-year-old woman with GSD IIIA who experienced a successful pregnancy and delivery through comprehensive multidisciplinary management, including metabolic, obstetric, dietary, anaesthetic, and neonatal care. This case contributes to the limited but growing body of literature on pregnancy in GSD IIIA and highlights the critical importance of personalized, team-based care in rare metabolic diseases.

Obstetric Medicine
University College Dublin (IE), Trinity College Dublin (IE), Cork University Hospital (IE), Mater Misericordiae University Hospital (IE), Coombe Women & Infants University Hospital (IE)
Good health and well-being
Openalex Percentile: Top 19%
Glycogen Storage Diseases and Myoclonus
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