Pregnancies in Women With Long-Chain Fatty Acid Oxidation Disorders: Results of a European and North American Survey

Grünert SC, Langeveld M, Rudolph L, Spiekerkoetter U, Lund AM, Sechi A, Akar HT, Stepien KM, Aghakishili H, Lotz-Havla AS, Parhofer KG, Mercimek-Andrews S, Yazıcı H, Uçar SK, Scherer T, Wagenmakers M, Arslan N, Chang I, LaTray A, Bzduch V, Barić I, Weigel C, van Ockenburg SL, Rennings A, Derks TG, Rossi A, Cassiman D, Murphy E (2026)

Publication Type: Journal article

Publication year: 2026

Journal

Book Volume: 49

Article Number: e70140

Journal Issue: 1

DOI: 10.1002/jimd.70140

Abstract

Long-chain fatty acid oxidation disorders (lcFAODs) are genetic disorders of energy metabolism that are associated with a risk of metabolic decompensation, especially during catabolic episodes. With improvement in diagnostics and treatment, more women with lcFAODs now reach child-bearing age. So far, little is known about the risk and outcome of pregnancies, particularly in women with more severe forms of lcFAODs. We performed an international web-based survey among health care professionals involved in the care of individuals with lcFAODs and collected data on 89 pregnancies in 39 women (mild VLCAD deficiency n = 8, severe VLCAD deficiency n = 10, LCHAD deficiency n = 4, CPT2 deficiency n = 14, CPT1 deficiency n = 3). There were 72 live births, 12 spontaneous miscarriages, and one stillbirth at 41 weeks of gestation. Four women were still pregnant at the time of the survey. In 25 women, the diagnosis was known before the first pregnancy, whereas 14 had at least one pregnancy before diagnosis. Most women remained metabolically stable during pregnancy, although 19% of women had at least one metabolic decompensation during pregnancy. Forty-one percent of babies were delivered by spontaneous vaginal delivery, 33% after induced labor, and 19% by an elective Caesarean section. Most deliveries were uncomplicated, with preventive i.v. glucose infusions given in 50%. However, 21% of mothers developed a metabolic decompensation in the postpartum period. No maternal deaths were reported. In conclusion, our data show that the outcome of pregnancies in lcFAOD patients is generally favorable, despite a significant risk of metabolic decompensation during the postpartum period.

Authors with CRIS profile

Involved external institutions

Dokuz Eylül Üniversitesi (DEU) Turkey (TR) Universitätsklinikum Freiburg Germany (DE) Salford Royal Hospital United Kingdom (GB) University of California San Francisco (UCSF) United States (USA) (US) Rigshospitalet Denmark (DK) University Medical Center Groningen (UMCG) / Universitair Medisch Centrum Groningen Netherlands (NL) Comenius University Bratislava Slovakia (SK) Policlinico Città di Udine Italy (IT) Medizinische Universität Wien Austria (AT) Katholieke Universiteit Leuven (KUL) / Catholic University of Leuven Belgium (BE) Hacettepe University Turkey (TR) National Hospital For Neurology and Neurosurgery United Kingdom (GB) Istanbul University Cerrahpaşa / İstanbul Üniversitesi Cerrahpaşa (IUC) Turkey (TR) Radboud University Nijmegen Medical Centre / Radboudumc of voluit Radboud Universitair Medisch Centrum (UMC) Netherlands (NL) University of Alberta Canada (CA) Ege University / Ege Üniversitesi Turkey (TR) Erasmus University Medical Center (MC) Netherlands (NL) Università degli Studi di Napoli Federico II Italy (IT) Zagreb University Hospital Centre / Klinički bolnički centar Zagreb (KBC) Croatia (HR) Amsterdam University Medical Centers (Amsterdam UMC) / Amsterdam Universitair Medische Centra Netherlands (NL) Klinikum der Universität München (LMU Klinikum) Germany (DE)

How to cite

APA:

Grünert, S.C., Langeveld, M., Rudolph, L., Spiekerkoetter, U., Lund, A.M., Sechi, A.,... Murphy, E. (2026). Pregnancies in Women With Long-Chain Fatty Acid Oxidation Disorders: Results of a European and North American Survey. Journal of Inherited Metabolic Disease, 49(1). https://doi.org/10.1002/jimd.70140

MLA:

Grünert, Sarah C., et al. "Pregnancies in Women With Long-Chain Fatty Acid Oxidation Disorders: Results of a European and North American Survey." Journal of Inherited Metabolic Disease 49.1 (2026).

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