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Case Report of Argininemia: The Utility of the Arginine/Ornithine Ratio for Newborn Screening (NBS)

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JIMD Reports – Case and Research Reports, 2012/6

Part of the book series: JIMD Reports ((JIMD,volume 9))

Abstract

We describe a case of Argininemia detected by Michigan Newborn Screening (NBS). The Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children recommends that every MS/MS newborn screening program include Argininemia as part of their uniform screening panel. While affected infants will be detected by this testing, Arginine levels may take time to accumulate. Thus, some infants may not be detected by this methodology and early sample collection. In Michigan, since initiating testing for Argininemia in 2006, there has been workup of 23 cases for elevated Arginine identified by NBS, with one case identified as affected. We report this affected case. Subsequently, the Arginine/Ornithine ratio was calculated for all cases and was found to be informative with respect to predicting whether a patient is affected by Argininemia.

Competing interests: None declared

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References

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Author information

Authors and Affiliations

  1. Department of Pediatrics, Division of Genetics, Wayne State University School of Medicine, 3901 Beaubien, Detroit, MI, 48201-2119, USA

    Allison Jay

  2. 313 Briargrove, Crockett, Texas, 75835, USA

    Robert Grier

  3. Newborn Screening Section, Michigan Department of Community Health, Bureau of Laboratories, Chemistry and Toxicology, 3350 N. MLK Jr. Blvd., Lansing, MI, 48906, USA

    Mary Seeterlin & Eleanor Stanley

  4. Department of Genetics, DMC Children’s Hospital of Michigan, 5A, 3901 Beaubien Blvd, Detroit, MI, 48201-2119, USA

    Allison Jay

Authors
  1. Allison Jay
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  2. Mary Seeterlin
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  3. Eleanor Stanley
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  4. Robert Grier
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Corresponding author

Correspondence to Allison Jay .

Editor information

Editors and Affiliations

  1. Sektionen für Humangenetik und Klinische, Medizinische Universität Innsbruck, Innsbruck, Austria

    Johannes Zschocke (Editors-in-Chief) (Editors-in-Chief)

  2. Biological Sciences, Michigan Technological University, Houghton, Michigan, USA

    K. Michael Gibson (Editors-in-Chief) (Editors-in-Chief)

  3. Department of Biochemistry Genetics Unit, University of Oxford, Oxford, UK

    Garry Brown (Editors) (Editors)

  4. Medical Center Department of Pediatrics IGMD, Radboud University Nijmegen, Nijmegen, Netherlands

    Eva Morava (Editors) (Editors)

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

    Verena Peters (Managing Editor) (Managing Editor)

Additional information

Communicated by: Bridget Wilcken

Take-Home Message

Take-Home Message

The Arginine/Ornithine ratio may be an important tool in predicting which patients are affected by Argininemia.

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© 2012 SSIEM and Springer-Verlag Berlin Heidelberg

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Jay, A., Seeterlin, M., Stanley, E., Grier, R. (2012). Case Report of Argininemia: The Utility of the Arginine/Ornithine Ratio for Newborn Screening (NBS). In: Zschocke, J., Gibson, K.M., Brown, G., Morava, E., Peters, V. (eds) JIMD Reports – Case and Research Reports, 2012/6. JIMD Reports, vol 9. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2012_190

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  • DOI: https://doi.org/10.1007/8904_2012_190

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  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-35517-2

  • Online ISBN: 978-3-642-35518-9

  • eBook Packages: MedicineMedicine (R0)

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