Inherited Metabolic Disorders: Implications for the Obstetrician-Gynecologist

Importance: Inherited metabolic disorders, or inborn errors of metabolism, can result in significant morbidity and mortality. Advances in genetic testing, including newborn screening and prenatal carrier screening, continue to increase awareness and highlight the importance of these conditions. Increasingly, women born with these conditions are surviving to adulthood, and many become pregnant. The practicing obstetrician-gynecologist should be familiar with the most common and the most relevant inherited metabolic disorders affecting women. Objective: The objective of this review is to define inherited metabolic disorders that have relevance to the obstetrician-gynecologist. We discuss the diagnosis, presentation, epidemiology, and special concerns to the obstetrician-gynecologist managing patients affected by these conditions. Evidence Acquisition: A MEDLINE search of "inheritedmetabolic disorders" and " inborn errors of metabolism" and specific conditions reported in the review was performed. Results: The evidence cited in this review includes 8 case reports or case series, 4 text books, 1 systematic review, 1 American College of Obstetricians and Gynecologists committee opinion, and 18 additional peerreviewed journal articles that were original research or expert opinion summaries. Conclusions and Relevance: Inherited metabolic disorders manifest in diverse ways that have clinical implications for the obstetrician-gynecologist. Knowledge of these disorders and their pathophysiology and genetic basis can improve care provided for women affected by this diverse group of conditions. It is critical to assemble a multidisciplinary team of providers to optimize care for patients with inherited metabolic disorders. Target Audience: Obstetricians and gynecologists, family physicians. Learning Objectives: After completing this activity, the learner should be better able to compare selected types of inheritedmetabolic disorders regarding their impact on reproductive endocrinology, pregnancy, and gynecology; apply the basic principles ofMendelian inheritancewhen taking a family history and referwomen with a personal or family history of inherited metabolic disorders to the appropriate genetics services and specialists; educate patients and other health care providers about the association of delayed menstruation, infertility, premature ovarian insufficiency, and high-risk pregnancy in women with a personal or family history of inherited metabolic disorders; and provide general preconception counseling to women with a known diagnosis of selected inherited metabolic disorders and appropriately refer them to a specialized team during gestation and postpartum.