Successful pregnancy and delivery in a woman with propionic acidemia from the Amish community

Jessica Scott Schwoerer; Sandra van Calcar; Gregory M Rice; James Deline

doi:10.1016/j.ymgmr.2016.05.003

Successful pregnancy and delivery in a woman with propionic acidemia from the Amish community

Mol Genet Metab Rep. 2016 Jun 2:8:4-7. doi: 10.1016/j.ymgmr.2016.05.003. eCollection 2016 Sep.

Authors

Jessica Scott Schwoerer¹, Sandra van Calcar², Gregory M Rice¹, James Deline³

Affiliations

¹ Department of Pediatrics, University of Wisconsin, Madison, WI, USA.
² Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.
³ LaFarge Medical Clinic, LaFarge, WI, USA.

Abstract

Propionic acidemia (PA) is an inborn error of protein metabolism with a variable clinical presentation ranging from neonatal encephalopathy to seemingly asymptomatic individuals who present with cardiomyopathy or sudden death. PA is recognized in the Amish population, often with an early asymptomatic course and eventual cardiac complications. Thus, Amish women with PA may reach reproductive age without clinical sequelae, but are at increased risk for metabolic decompensation during pregnancy, delivery and postpartum period. We describe the care of an Amish woman with PA during her first pregnancy and delivery.

Keywords: Cardiomyopathy; IEM, Inborn error in metabolism; Inborn errors in metabolism; Organic acidemias; PA, Propionic acidemia; Pregnancy; Propionic acidemia.

Publication types

Case Reports