Propionic Acidemia diagnosed in Amish adults and pregnancy outcomes: A case series

Propionic Acidemia diagnosed in Amish adults and pregnancy outcomes: A case series

Background: Propionic acidemia (PA) is an inborn error of metabolism (IEM) that typically presents in the newborn. The Amish of North America have an increased prevalence of PA due to a founder variant in the PCCB gene. The Amish PA phenotype is variable, and some individuals remain asymptomatic and...

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Bibliographic Details
Main Authors: Ethan M. Scott, Brandon Smith, Joseph Liu, Karlee Hoffman, Jennifer Hershberger, Andew Crosby, Emma L. Baple, Olivia K. Wenger
Format: Article
Language:English
Published: Elsevier 2024-12-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Dilated cardiomyopathy
Diagnostic delay
Inborn error of metabolism
High-risk delivery
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426924001149
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