The following is a summary of “Inborn Errors of Metabolism and Pregnancy,” published in the June 2024 issue of Obstetrics & Gynecology by Murphey et al.
Advancements in diagnosing and treating individuals with inborn errors of metabolism have markedly improved their life expectancy, enabling more individuals with these conditions to reach reproductive age. However, managing inborn errors of metabolism during pregnancy presents a unique and complex challenge due to the profound metabolic changes that occur throughout gestation. Pregnancy induces a shift in maternal metabolism from an anabolic state supporting fetal growth and development to a catabolic state driven by hormonal fluctuations and increased energy demands. These metabolic shifts involve alterations in gluconeogenesis rates, glucose utilization, amino acid transport, protein turnover, and lipid metabolism, creating a dynamic physiological environment that requires vigilant monitoring and management.
The impact of maternal inborn errors of metabolism on fetal development and vice versa further complicates clinical management during pregnancy. For instance, conditions like phenylketonuria can lead to adverse fetal outcomes if not carefully controlled during gestation, highlighting the importance of strict dietary management and monitoring of maternal metabolic parameters. Conversely, fetal metabolic disorders, such as certain types of fatty acid oxidation disorders, can pose significant risks to maternal health through mechanisms like metabolic derangements and potential complications during labor and delivery.
Despite the critical need for comprehensive management strategies, the existing literature on managing inborn errors of metabolism during pregnancy remains limited. This scarcity underscores the importance of synthesizing available data and establishing evidence-based guidelines to guide clinical practice. Strategies for managing these conditions during pregnancy typically involve multidisciplinary care teams comprising obstetricians, maternal-fetal medicine specialists, geneticists, nutritionists, and metabolic specialists.
These teams collaborate to optimize maternal metabolic control, monitor fetal well-being, and mitigate potential complications associated with these complex metabolic disorders.
In summary, navigating pregnancy in individuals with inborn errors of metabolism requires a nuanced understanding of maternal and fetal metabolic dynamics, meticulous prenatal care, and tailored management strategies. By integrating current evidence and expert consensus, healthcare providers can enhance outcomes for mothers and infants affected by these challenging conditions.
Source: sciencedirect.com/science/article/abs/pii/S2589933324001253
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