Long-term outcomes in Amish patients diagnosed with propionic acidemia

Molecular Genetics and Metabolism Reports
Jessica A Scott SchwoererPatrice K Held

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.

Citations

May 24, 2019·Journal of Inherited Metabolic Disease·Hanneke A HaijesPeter M van Hasselt
Jan 4, 2021·Molecular Genetics and Metabolism·Carlos R Ferreira, Nenad Blau
Jan 29, 2021·Frontiers in Aging Neuroscience·Jessica KillingsworthR Douglas Shytle
Apr 6, 2021·Journal of Genetic Counseling·Sarah EhrenbergLina Ghaloul-Gonzalez

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