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

ABSTRACT:

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 undiagnosed until adulthood. Additionally, there are limited reports of pregnancy outcomes in Amish individuals with PA.

Methods

A retrospective single center chart review was completed on sixty Amish individuals with PA to identify individuals diagnosed as adults (18 years or older) and pregnancy outcomes. We assessed age at diagnosis, reason for PA testing, medical history prior to diagnosis including developmental delay, seizure, protein intolerance, cardiac symptoms, an

SUBMITTER: Scott EM 

PROVIDER: S-EPMC11617772 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature