Long-term outcomes in Amish patients diagnosed with propionic acidemia

Jessica Scott Schwoerer; Sarah Clowes Candadai; Patrice K Held

doi:10.1016/j.ymgmr.2018.05.004

Long-term outcomes in Amish patients diagnosed with propionic acidemia

Mol Genet Metab Rep. 2018 Jun 22:16:36-38. doi: 10.1016/j.ymgmr.2018.05.004. eCollection 2018 Sep.

Authors

Jessica Scott Schwoerer¹, Sarah Clowes Candadai¹, Patrice K Held^{1

2}

Affiliations

¹ Department of Pediatrics, University of Wisconsin School of Medicine, Madison, WI 53705, United States.
² Wisconsin State Laboratory of Hygiene, Madison, WI 53718, United States.

Abstract

Propionic acidemia (PA) occurs at a higher incidence within the Amish; however, sensitivity of newborn screening and its impact on long-term clinical outcomes has not been reported in this population. This study reviewed screening data and health records of 20 Wisconsin Amish patients diagnosed with PA. Newborn screening did not identify all cases; however, early detection did offer appreciable long-term protection from neurological sequelae. This is the first report summarizing PA cases within the Amish.

Keywords: Amish; Newborn screening; Propionic acidemia.