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Hyperhydroxyprolinaemia detected in newborn screening with tandem mass spectrometry

  • Published:
Journal of Inherited Metabolic Disease

Abstract

Summary: Hydroxyproline has the same integer molecular weight as leucine and isoleucine and is quantified with these by tandem mass spectrometry. An infant was diagnosed with hyperhydroxyprolinaemia following further evaluation of an elevated "leucine" level in newborn screening by tandem mass spectrometry.

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REFERENCES

  • Carpenter KH, Wiley V (2002)Application of tandem mass spectrometry to biochemical gen-etics and newborn screening.Clin Chim Acta 322:110.

    Google Scholar 

  • Chace DH, Hillman SL, Millington DS,et al (1995)Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry.Clin Chem 41:62-68.

    Google Scholar 

  • Phang JM, Hu CA, Valle D (2001)Disorders of proline and hydroxyproline metabolism.In: Scriver CR, Beaudet AL, Sly WS, Valle D,eds;Childs B, Kinzler KW, Vogelstein B, assoc. eds.The Metabolic and Molecular Base of Inherited Disease,8th edn.New York: McGraw-Hill,1821-1838.

    Google Scholar 

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Authors and Affiliations

  1. Children's Hospital, Department of Nutrition and Metabolism, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey

    T. Baykal, G. Gokcay, F. Demir & M. Demirkol

  2. Duzen Laboratories, Istanbul, Turkey

    I. Karaaslan & Y. Laleli

Authors
  1. T. Baykal
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  2. I. Karaaslan
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  3. G. Gokcay
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  4. F. Demir
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  5. Y. Laleli
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  6. M. Demirkol
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Correspondence to T. Baykal.

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Baykal, T., Karaaslan, I., Gokcay, G. et al. Hyperhydroxyprolinaemia detected in newborn screening with tandem mass spectrometry. J Inherit Metab Dis 27, 781–782 (2004). https://doi.org/10.1023/B:BOLI.0000045839.08631.9d

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  • DOI: https://doi.org/10.1023/B:BOLI.0000045839.08631.9d

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