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

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Journal of Inherited Metabolic Disease

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.

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References

  • 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) 331–339

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Authors and Affiliations

  1. Division of Pediatric Genetics and Metabolism, Duke University Medical Center, Box 3028, 27710, Durham, NC, USA

    D. S. Millington, N. Kodo, D. L. Norwood & C. R. Roe

Authors
  1. D. S. Millington
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  2. N. Kodo
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  3. D. L. Norwood
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  4. C. R. Roe
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Millington, D.S., Kodo, N., Norwood, D.L. et al. Tandem mass spectrometry: A new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism. J Inherit Metab Dis 13, 321–324 (1990). https://doi.org/10.1007/BF01799385

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  • DOI: https://doi.org/10.1007/BF01799385

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