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Journal of Inherited Metabolic Disease

, Volume 13, Issue 3, pp 321–324 | Cite as

Tandem mass spectrometry: A new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism

  • D. S. Millington
  • N. Kodo
  • D. L. Norwood
  • C. R. Roe
Short Communication

Conclusion

A method for analysis of acylcarnitines in blood at physiological concentrations has been developed. Preliminary results from umbilical cord blood and neonatal blood spotted onto Guthrie cards are encouraging. This method will detect up to at least eight inherited metabolic disorders which exhibit diagnostic acylcarnitine profiles, including medium-chain acyl-CoA dehydrogenase deficiency. The speed and simplicity of the method permit automation with existing technology, and could enable routine neonatal screening to be carried out in an efficient and cost-effective manner.

Keywords

Cord Blood Tandem Mass Tandem Mass Spectrometry Metabolic Disorder Umbilical Cord 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. Millington, D. S., Norwood, D. L., Kodo, N., Roe, C. R. and Inoue, F. Application of fast atom bombardment with tandem mass spectrometry and liquid chromatography/mass spectrometry to the analysis of acylcarnitines in human urine, blood and tissue.Anal. Biochem. 180 (1989) 331–339Google Scholar
  2. Roe, C. R., Millington, D. S. and Maltby, D. A. Diagnostic and therapeutic implications of acylcarnitine profiling in organic acidurias associated with carnitine insufficiency. In Borum, P. R. (ed.),Clinical Aspects of Human Carnitine Deficiency, Pergamon Press, New York; 1986, pp 97–107Google Scholar
  3. Valkner, K. O. and Bieber, L. L. Short-chain acylcarnitines of human blood and urine.Biochem. Med. 28 (1982) 197–203.Google Scholar

Copyright information

© SSIEM and Kluwer Academic Publishers 1990

Authors and Affiliations

  • D. S. Millington
    • 1
  • N. Kodo
    • 1
  • D. L. Norwood
    • 1
  • C. R. Roe
    • 1
  1. 1.Division of Pediatric Genetics and MetabolismDuke University Medical CenterDurhamUSA

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