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Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine

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JIMD Reports, Volume 35

Part of the book series: JIMD Reports ((JIMD,volume 35))

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.

Authors Gerarda Cappuccio and Paldeep S. Atwal contributing equally to the work.

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Abbreviations

2-MCA:

2-Methylcitrate

3-OHP:

3-Hydroxypropionate

C3:

Propionylcarnitine

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Acknowledgments

We thank Dr. Q. Sun for critical discussion.

Author information

Author notes

    Authors and Affiliations

    1. Department of Translational Medicine, Sector of Pediatrics, University of Naples Federico II, Naples, Italy

      Gerarda Cappuccio

    2. Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA

      Gerarda Cappuccio, Paldeep S. Atwal, Taraka R. Donti, Kiki Ugarte, Nadia Merchant, William J. Craigen, V. Reid Sutton & Sarah H. Elsea

    3. Baylor Genetics Laboratories, One Baylor Plaza, Houston, TX, 77030, USA

      Gerarda Cappuccio, Paldeep S. Atwal, Taraka R. Donti & V. Reid Sutton

    4. Department of Clinical Genomics, Center for Individualized Medicine, Mayo Clinic, Jacksonville, FL, 32224, USA

      Paldeep S. Atwal

    Authors
    1. Gerarda Cappuccio
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    2. Paldeep S. Atwal
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    4. Kiki Ugarte
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    Corresponding author

    Correspondence to Sarah H. Elsea .

    Editor information

    Editors and Affiliations

    1. Tulane University Medical School , New Orleans, Louisiana, USA

      Eva Morava

    2. Division of Metabolism and Children’s Research Centre, University Children’s Hospital Zurich, Zurich, Switzerland

      Matthias Baumgartner

    3. Division of Child and Adolescent Neurology, Mayo Clinic, Rochester, Minnesota, USA

      Marc Patterson

    4. Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, United Kingdom

      Shamima Rahman

    5. Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria

      Johannes Zschocke

    6. Center for Child and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany

      Verena Peters

    Additional information

    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.

    Competing Interest Statement

    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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    • Publisher Name: Springer, Berlin, Heidelberg

    • Print ISBN: 978-3-662-55832-4

    • Online ISBN: 978-3-662-55833-1

    • eBook Packages: Biomedical and Life SciencesBiomedical and Life Sciences (R0)

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