Abstract
We report three patients with elevations of propionylcarnitine (C3), one without elevations of 2-methylcitrate and 3-hydroxypropionate in urine organic acid analysis, and the other two showing only mild elevations, all of whom were subsequently confirmed to have propionic acidemia by molecular analysis of PCCA and PCCB genes. To date, they have had a mild clinical course. These cases illustrate the importance of considering high C3 as the only biochemical abnormality in a diagnosis of propionic acidemia. Since mild C3 elevations may be overlooked and considered non-diagnostic in isolation, we advise considering a diagnosis of propionic acidemia even in the absence of significant elevations 2-methylcitrate or 3-hydroxypropionate in urine organic acid analysis.
Keywords
Authors Gerarda Cappuccio and Paldeep S. Atwal contributing equally to the work.
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- 2-MCA:
-
2-Methylcitrate
- 3-OHP:
-
3-Hydroxypropionate
- C3:
-
Propionylcarnitine
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Acknowledgments
We thank Dr. Q. Sun for critical discussion.
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Communicated by: Georg Hoffmann
Appendices
Take-Home Message
The absence of 2-methylcitrate and 3-hydroxypropionate might be misleading in the diagnostic process for patients with propionic acidemia.
Authors’ Contribution
GC and PSA were involved in conception and design of the study. TRD, KU, and NM analyzed and interpreted the data. QS, VRS, and WJC reviewed and revised critically the manuscript for important intellectual content. SHE supervised the work, coordinated the preparation of the work for publication, and is the corresponding author. All authors have approved the submission of the manuscript.
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The authors declare no competing interests.
Ethics Statement
All procedures followed were in accordance with the ethical standards of the U.S. Department of Health and Human Services and were approved by the Baylor College of Medicine Institutional Review Board in accordance with Helsinki Declaration of 1975 as revised in 2000. This study was approved with a waiver of informed consent.
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© 2016 Society for the Study of Inborn Errors of Metabolism (SSIEM)
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Cappuccio, G. et al. (2016). Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine. In: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (eds) JIMD Reports, Volume 35. JIMD Reports, vol 35. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2016_21
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DOI: https://doi.org/10.1007/8904_2016_21
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