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

Autor:	Hannah WB; Center for Human Genetics, University Hospitals Cleveland Medical Center, Cleveland, OH, United States of America.; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, United States of America.; Department of Genetics, University of North Carolina, Chapel Hill, NC, United States of America., Dempsey KJ; Center for Human Genetics, University Hospitals Cleveland Medical Center, Cleveland, OH, United States of America.; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, United States of America., Schillaci LP; Center for Human Genetics, University Hospitals Cleveland Medical Center, Cleveland, OH, United States of America.; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, United States of America., Zacharias M; Section of Heart Failure and Heart Transplantation, Division of Cardiovascular Medicine, University Hospitals Cleveland Medical Center, Cleveland, OH, United States of America., McCandless SE; Center for Human Genetics, University Hospitals Cleveland Medical Center, Cleveland, OH, United States of America.; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, United States of America.; Department of Pediatrics, University of Colorado Anschutz Medical Campus and Children's Hospital Colorado, Aurora, CO, United States of America., Wynshaw-Boris A; Center for Human Genetics, University Hospitals Cleveland Medical Center, Cleveland, OH, United States of America.; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, United States of America., Konczal LL; Center for Human Genetics, University Hospitals Cleveland Medical Center, Cleveland, OH, United States of America.; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, United States of America., Bedoyan JK; Center for Human Genetics, University Hospitals Cleveland Medical Center, Cleveland, OH, United States of America.; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, United States of America.
Jazyk:	angličtina
Zdroj:	Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2019 Nov 06; Vol. 21, pp. 100537. Date of Electronic Publication: 2019 Nov 06 (Print Publication: 2019).
DOI:	10.1016/j.ymgmr.2019.100537
Abstrakt:	Although 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. (© 2019 The Authors.)
Databáze:	MEDLINE
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