Propionic Acidemia diagnosed in Amish adults and pregnancy outcomes: A case series
Our work supports the consideration that all Amish newborns be screened for PA with molecular testing to enable early diagnosis. The stark difference in peripartum outcomes requires further prospective work to ensure appropriate monitoring throughout pregnancy while respecting individual values and autonomy.
Authors
- Brandon Smith
- Joseph N. Liu (ORCID: https://orcid.org/0000-0002-3801-8885)
- Ethan M. Scott (ORCID: https://orcid.org/0000-0002-2129-9422)
- Jennifer Hershberger
- A. Crosby
- Emma L. Baple (ORCID: https://orcid.org/0000-0002-6637-3411)
- Olivia Wenger (ORCID: https://orcid.org/0000-0001-9197-1491)
- Karlee Hoffman (ORCID: https://orcid.org/0000-0001-7872-9799)
Institutions
- Clinic for Special Children (US)
- Cleveland Clinic (US)
- Notre Dame College (US)
- University of Exeter (GB)
- Royal Devon & Exeter NHS Foundation Trust (GB)
- Akron Children's Hospital (US)
- Community Care (US)
Publication Details
- Journal
- Molecular Genetics and Metabolism Reports
- Published
- 2024-11-20
- DOI
- https://doi.org/10.1016/j.ymgmr.2024.101161
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Institute for Health and Care Research
- Department of Health and Social Care
- Medical Research Council