文章基本信息

标题：Life-threatening presentations of propionic acidemia due to the Amish PCCB founder variant
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作者：William B. Hannah ; Katherine J. Dempsey ; Lori-Anne P. Schillaci 等
期刊名称：Molecular Genetics and Metabolism Reports
印刷版ISSN：2214-4269
出版年度：2019
卷号：21
页码：1-3
DOI：10.1016/j.ymgmr.2019.100537
出版社：Elsevier B.V.
摘要：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.