摘要：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.
关键词：Propionic acidemia; Inborn errors in metabolism; Cardiomyopathy; Pregnancy; Organic acidemias
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