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Pregnancy Outcomes in Long-Chain Fatty Acid Oxidation Disorders are Generally Favorable: Study Finds
Germany: Researchers have found in a new study that pregnancy outcomes in patients with long-chain fatty acid oxidation disorders (lcFAOD) are generally favorable; however, there is a significant risk of metabolic decompensation during the postpartum period, emphasizing the need for close monitoring after delivery.
Long-chain fatty acid oxidation disorders are rare inherited metabolic conditions that impair the body’s ability to generate energy from long-chain fatty acids, particularly during periods of increased metabolic demand such as fasting, illness, or childbirth. Advances in early diagnosis and long-term management have allowed more affected girls to survive into adulthood and consider pregnancy. Despite this shift, data on pregnancy-related risks in women with lcFAOD—especially those with more severe disease phenotypes—have remained limited.
To address this gap, Sarah C. Grünert from the Department of Pediatrics, Adolescent Medicine and Neonatology, Freiburg University Hospital, Germany, and colleagues conducted a European and North American survey among healthcare professionals caring for individuals with lcFAOD. The findings were published in the Journal of Inherited Metabolic Disease.
Using an international web-based questionnaire, the researchers collected retrospective data on 89 pregnancies in 39 women with various lcFAOD subtypes, including mild and severe very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency, long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency, and carnitine palmitoyltransferase (CPT) 1 and 2 deficiencies.
The study led to the following findings:
- Among 89 reported pregnancies, 72 resulted in live births, 12 ended in spontaneous miscarriage, and one resulted in stillbirth at 41 weeks of gestation, while four pregnancies were ongoing at the time of the survey.
- More than half of the women were diagnosed with long-chain fatty acid oxidation disorders before their first pregnancy, whereas others were diagnosed only after experiencing at least one pregnancy.
- Most women remained metabolically stable during pregnancy, though nearly 20% experienced at least one episode of metabolic decompensation during gestation.
- Delivery outcomes were generally favorable, with 41% of births via spontaneous vaginal delivery, 33% following induced labor, and 19% by elective caesarean section.
- Preventive intravenous glucose infusions were used in approximately half of the deliveries as part of metabolic management.
- The postpartum period posed a higher risk, with about 21% of mothers developing metabolic decompensation after delivery.
- No maternal deaths were reported, indicating positive overall outcomes with appropriate clinical care.
The authors acknowledge several limitations, including possible selection bias and incomplete historical data, as some pregnancies occurred many years earlier. They emphasize the need for improved data capture through rare disease registries and stronger international collaboration to enhance future research quality.
In conclusion, the large international survey suggests that women with lcFAOD can achieve successful pregnancies with generally favorable outcomes. However, the findings highlight the importance of individualized counseling, careful metabolic management, and vigilant postpartum monitoring—particularly for women with more severe disease forms. These results provide reassurance for clinicians and patients alike while reinforcing the need for structured follow-up after delivery to minimize preventable complications.
Reference:
Grünert, S. C., Langeveld, M., Rudolph, L., Spiekerkoetter, U., Lund, A. M., Sechi, A., Akar, H. T., Stepien, K. M., Aghakishili, H., Lotz-Havla, A. S., Parhofer, K. G., Mercimek-Andrews, S., Yazıcı, H., Uçar, S. K., Scherer, T., Wagenmakers, M., Arslan, N., Chang, I., LaTray, A., . . . Murphy, E. (2025). 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), e70140. https://doi.org/10.1002/jimd.70140
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