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.

中文翻译：

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由于Amish PCCB奠基人的变种，危及生命的丙酸血症的表现。

尽管通常认为具有丙酸血症（PA）的阿米什人后裔个体具有较温和的疾病表型，但我们现在对该人群中PA的自然病史有了更好的了解。在这里，我们描述了两名患有PA紧急发作的阿米什人患者，一名患有代谢失代偿，另一名患有心源性休克。PA可能会威胁生命的代谢失代偿或成年发作的严重心肌病。我们讨论该观察结果的关键临床意义。