Inherited Metabolic Disorders: Implications for the Obstetrician-Gynecologist

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.

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.

A MEDLINE search of "inherited metabolic disorders" and "inborn errors of metabolism" and specific conditions reported in the review was performed.

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.

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.