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

Research output: Contribution to journalArticlepeer-review

5 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)4-7
Number of pages4
JournalMolecular Genetics and Metabolism Reports
Volume8
DOIs
StatePublished - Sep 1 2016

Keywords

  • Cardiomyopathy
  • Inborn errors in metabolism
  • Organic acidemias
  • Pregnancy
  • Propionic academia

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Endocrinology

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