Life-threatening presentations of propionic acidemia due to the Amish PCCB founder variant

Publication date: December 2019Source: Molecular Genetics and Metabolism Reports, Volume 21Author(s): William B. Hannah, Katherine J. Dempsey, Lori-Anne P. Schillaci, Michael Zacharias, Shawn E. McCandless, Anthony Wynshaw-Boris, Laura L. Konczal, Jirair K. BedoyanAbstractAlthough individuals of Amish descent with propionic acidemia (PA) are generally thought to have a milder disease phenotype, we now have a better understanding of the natural history of PA in this population. Here we describe two Amish patients with emergent presentations of PA, one with metabolic decompensation and another with cardiogenic shock. PA can present with life-threatening metabolic decompensation or an adult-onset severe cardiomyopathy. We discuss critical clinical implications of this observation.
Source: Molecular Genetics and Metabolism Reports - Category: Genetics & Stem Cells Source Type: research