Toward standardized care: International expert survey on pregnancy management in long-chain fatty acid oxidation disorders and unmet needs

Zeyer KA, Derks TG, Langeveld M, Murphy E, Rossi A, Spiekerkoetter U, Wagenmakers M, Grünert SC, Aghakishili H, Agarwala A, Akar HT, Arslan N, Beblo S, Berry G, Bigot A, Bzduch V, Cassiman D, Chang I, Das AM, Douillard C, Forny P, Fung CW, Gramer G, Haas D, Haase C, Heras Jdl, Karall D, Kavanagh K, Laemmle A, Lapatto R, LaTray A, de Lonlay P, LoPiccolo MK, Lotz-Havla AS, Lund AM, Martín-Hernández E, May P, Mercimek-Andrews S, Nakajima Y, Nassogne MC, Thacker CN, O'Byrne JJ, van Ockenburg SL, Oscarson M, Park J, Parhofer K, Quijada-Fraile P, Rennings A, Rudolph L, Scherer T, Sechi A, Shakerdi L, Stepien KM, Stølen LH, Sykut-Cegielska J, Tazmini K, Tran C, Uçar SK, Vockley J, Weinhold N, Wortmann SB, Weigel C, Yazıcı H, Ziagaki A (2026)

Publication Type: Journal article

Publication year: 2026

Journal

Book Volume: 149

Article Number: 110200

Journal Issue: 1-2

DOI: 10.1016/j.ymgme.2026.110200

Abstract

Background: Long-chain fatty acid oxidation disorders (LcFAODs) are rare inherited disorders associated with impaired energy metabolism and increased risk of metabolic decompensation during catabolic stress. With improved diagnosis and care, affected women reach reproductive age, making pregnancy management an emerging clinical challenge. Methods: We conducted an international, web-based survey among 55 metabolic centers from 21 countries to assess clinical management of pregnancies in women with lcFAODs focusing on management strategies rather than pregnancy outcomes. The 23-item questionnaire addressed preconception counseling, monitoring strategies, dietary management, peripartum care, postpartum follow-up, and neonatal management. Results: Among respondents, 65% had managed pregnancies in women with lcFAODs, reporting 131 cases, most commonly in CPT2 (n = 52) and VLCAD (n = 44) deficiencies. Preconception counseling and genetic consultation were widely recommended (>85%). Core management principles included dietary adaptation with restriction of long-chain fatty acids, supplementation with medium-chain triglycerides, and prevention of catabolism.Marked inter-center variability was observed in monitoring frequency, biochemical parameters, and follow-up intensity. Creatine kinase was the most used biochemical marker for monitoring metabolic stability. Multidisciplinary care was endorsed but inconsistently implemented, with approximately half of the centers reporting structured multidisciplinary meetings. Individualized peripartum plans were nearly universal, and delivery in specialized centers was generally recommended. Conclusions: Pregnancy in women with lcFAODs is generally considered feasible and safe under specialist metabolic and obstetric care. However, management remains highly heterogeneous, particularly regarding monitoring and multidisciplinary structures. These findings highlight the need for international consensus and standardized care frameworks to optimize maternal and neonatal outcomes.

Authors with CRIS profile

Involved external institutions

Cliniques universitaires Saint-Luc (CHU St-Luc) Belgium (BE) Université de Lausanne (UNIL) Switzerland (CH) Ege University / Ege Üniversitesi Turkey (TR) University of Pittsburgh United States (USA) (US) Charité - Universitätsmedizin Berlin Germany (DE) Universitätskliniken Salzburg Austria (AT) Universitätsklinikum Freiburg Germany (DE) University Medical Center Groningen (UMCG) / Universitair Medisch Centrum Groningen Netherlands (NL) Amsterdam University Medical Centers (Amsterdam UMC) / Amsterdam Universitair Medische Centra Netherlands (NL) National Hospital For Neurology and Neurosurgery United Kingdom (GB) Università degli Studi di Napoli Federico II Italy (IT) Erasmus University Medical Center (MC) Netherlands (NL) Hong Kong Children's Hospital Hong Kong (HK) Universitätsklinikum Hamburg-Eppendorf (UKE) Germany (DE) Ruprecht-Karls-Universität Heidelberg Germany (DE) Fujita Health University Japan (JP) Mater Misericordiae University Hospital (MMUH) / Ospidéal an Mater Misercordiae Ireland (IE) Trinity College Dublin Ireland (IE) Karolinska University Hospital / Karolinska Universitetssjukhuset Sweden (SE) Universitätsklinikum Münster Germany (DE) Klinikum der Universität München (LMU Klinikum) Germany (DE) Radboud University Nijmegen Medical Centre / Radboudumc of voluit Radboud Universitair Medisch Centrum (UMC) Netherlands (NL) Medizinische Universität Wien Austria (AT) Policlinico Città di Udine Italy (IT) Salford Royal Hospital United Kingdom (GB) Oslo University Hospital / Oslo Universitetssykehus Rikshospitalet Norway (NO) Institute of Mother and Child / Instytut Matki I Dziecka Poland (PL) Istanbul University Cerrahpaşa / İstanbul Üniversitesi Cerrahpaşa (IUC) Turkey (TR) All India Institute of Medical Sciences India (IN) Hacettepe University Turkey (TR) Dokuz Eylül Üniversitesi (DEU) Turkey (TR) Universitätsklinikum Leipzig Germany (DE) Boston Children's Hospital United States (USA) (US) Hôpital Bretonneau France (FR) Comenius University Bratislava Slovakia (SK) University Hospital Leuven (UZ) / Universitaire ziekenhuizen Leuven Belgium (BE) University of California San Francisco (UCSF) United States (USA) (US) Medizinische Hochschule Hannover (MHH) / Hannover Medical School Germany (DE) Centre Hospitalier Régional Universitaire de Lille (CHRU de Lille) France (FR) Universitäts-Kinderspital Zürich Switzerland (CH) HELIOS Kliniken Germany (DE) Osakidetza Spain (ES) Medizinische Universität Innsbruck Austria (AT) Inselspital, Universitätsspital Bern Switzerland (CH) Helsinki University Central Hospital (HUCH) / Helsingin seudun yliopistollinen keskussairaala (HYKS) Finland (FI) Université Sorbonne Paris Cité France (FR) Cardiovascular Research Foundation United States (USA) (US) Rigshospitalet Denmark (DK) Hospital 12 de Octubre Spain (ES) Universitätsklinikum Düsseldorf Germany (DE) University of Alberta Canada (CA)

How to cite

APA:

Zeyer, K.A., Derks, T.G., Langeveld, M., Murphy, E., Rossi, A., Spiekerkoetter, U.,... Ziagaki, A. (2026). Toward standardized care: International expert survey on pregnancy management in long-chain fatty acid oxidation disorders and unmet needs. Molecular Genetics and Metabolism, 149(1-2). https://doi.org/10.1016/j.ymgme.2026.110200

MLA:

Zeyer, Karina A., et al. "Toward standardized care: International expert survey on pregnancy management in long-chain fatty acid oxidation disorders and unmet needs." Molecular Genetics and Metabolism 149.1-2 (2026).

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