Life-threatening presentations of propionic acidemia due to the Amish PCCB founder variant
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 d...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2019-12-01
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| Series: | Molecular Genetics and Metabolism Reports |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426919301454 |
| _version_ | 1819128881544691712 |
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| author | William B. Hannah Katherine J. Dempsey Lori-Anne P. Schillaci Michael Zacharias Shawn E. McCandless Anthony Wynshaw-Boris Laura L. Konczal Jirair K. Bedoyan |
| author_facet | William B. Hannah Katherine J. Dempsey Lori-Anne P. Schillaci Michael Zacharias Shawn E. McCandless Anthony Wynshaw-Boris Laura L. Konczal Jirair K. Bedoyan |
| author_sort | William B. Hannah |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-22T08:34:52Z |
| format | Article |
| id | doaj.art-f5520ae4f14f47fd9a67479afdbf884f |
| institution | Directory Open Access Journal |
| issn | 2214-4269 |
| language | English |
| last_indexed | 2024-12-22T08:34:52Z |
| publishDate | 2019-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Molecular Genetics and Metabolism Reports |
| spelling | doaj.art-f5520ae4f14f47fd9a67479afdbf884f2022-12-21T18:32:23ZengElsevierMolecular Genetics and Metabolism Reports2214-42692019-12-0121Life-threatening presentations of propionic acidemia due to the Amish PCCB founder variantWilliam B. Hannah0Katherine J. Dempsey1Lori-Anne P. Schillaci2Michael Zacharias3Shawn E. McCandless4Anthony Wynshaw-Boris5Laura L. Konczal6Jirair K. Bedoyan7Center 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; Corresponding author: 120 Mason Farm Road, Chapel Hill, NC 27599-7264, United States of America.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 AmericaCenter 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 AmericaSection of Heart Failure and Heart Transplantation, Division of Cardiovascular Medicine, University Hospitals Cleveland Medical Center, Cleveland, OH, United States of AmericaCenter 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 AmericaCenter 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 AmericaCenter 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 AmericaCenter 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 AmericaAlthough 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.http://www.sciencedirect.com/science/article/pii/S2214426919301454 |
| spellingShingle | William B. Hannah Katherine J. Dempsey Lori-Anne P. Schillaci Michael Zacharias Shawn E. McCandless Anthony Wynshaw-Boris Laura L. Konczal Jirair K. Bedoyan Life-threatening presentations of propionic acidemia due to the Amish PCCB founder variant Molecular Genetics and Metabolism Reports |
| title | Life-threatening presentations of propionic acidemia due to the Amish PCCB founder variant |
| title_full | Life-threatening presentations of propionic acidemia due to the Amish PCCB founder variant |
| title_fullStr | Life-threatening presentations of propionic acidemia due to the Amish PCCB founder variant |
| title_full_unstemmed | Life-threatening presentations of propionic acidemia due to the Amish PCCB founder variant |
| title_short | Life-threatening presentations of propionic acidemia due to the Amish PCCB founder variant |
| title_sort | life threatening presentations of propionic acidemia due to the amish pccb founder variant |
| url | http://www.sciencedirect.com/science/article/pii/S2214426919301454 |
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