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Inherited Metabolic Disorders: Implications for the Obstetrician-Gynecologist

Hopkins, Maeve K., MD, MA*; Dugoff, Lorraine, MD; Kuller, Jeffrey A., MD

Obstetrical & Gynecological Survey: June 2018 - Volume 73 - Issue 6 - p 361–367
doi: 10.1097/OGX.0000000000000566
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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 “inherited metabolic 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 peer-reviewed 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 inherited metabolic disorders regarding their impact on reproductive endocrinology, pregnancy, and gynecology; apply the basic principles of Mendelian inheritance when taking a family history and refer women 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.

*Fellow, Division of Maternal-Fetal Medicine, and

Professor, Divisions of Reproductive Genetics and Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Hospital of the University of Pennsylvania, Philadelphia, PA; and

Professor, Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Duke University Medical Center, Durham, NC

All authors, faculty, and staff in a position to control the content of this CME activity and their spouses/life partners (if any) have disclosed that they have no financial relationships with, or financial interests in, any commercial organizations pertaining to this educational activity.

Correspondence requests to: Maeve K. Hopkins, MD, MA, Hospital of the University of Pennsylvania, 3400 Spruce St, Philadelphia, PA 19104. E-mail:

Copyright © 2018 Wolters Kluwer Health, Inc. All rights reserved.