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Tandem mass spectrometry: A new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism
Abstract
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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Cited by
Newgard, C. B., An, J., Bain, J. R., Muehlbauer, M. J., Stevens, R. D., Lien, L. F., Haqq, A. M., Shah, S. H., Arlotto, M., Slentz, C. A., et al. (2009) · Cell Metabolism · doi:10.1016/j.cmet.2009.02.002 · Cited by 3,165
Self-citationAn, J., Muoio, D. M., Shiota, M., Fujimoto, Y., Cline, G. W., Shulman, G. I., Koves, T. R., Stevens, R., Millington, D., & Newgard, C. B. (2004) · Nature Medicine · doi:10.1038/nm995 · Cited by 450
Self-citationHulver, M. W., Berggren, J. R., Carper, M. J., Miyazaki, M., Ntambi, J. M., Hoffman, E. P., Thyfault, J. P., Stevens, R., Dohm, G. L., Houmard, J. A., et al. (2005) · Cell Metabolism · doi:10.1016/j.cmet.2005.09.002 · Cited by 384
Muoio, D. M., Noland, R. C., Kovalik, J.-P., Seiler, S. E., Davies, M. N., DeBalsi, K. L., Ilkayeva, O. R., Stevens, R. D., Kheterpal, I., Zhang, J., et al. (2012) · Cell Metabolism · doi:10.1016/j.cmet.2012.04.005 · Cited by 372
“Acylcarnitine measurements were made using flow injection tandem mass spectrometry and methods described in (An et al., 2004; Millington et al., 1990).”
MethodCARNITINE METABOLISM AND ITS REGULATION IN MICROORGANISMS AND MAMMALS
Rebouche, C. J., & Seim, H. (1998) · Annual Review of Nutrition · doi:10.1146/annurev.nutr.18.1.39 · Cited by 362
Disorders of mitochondrial fatty acyl‐CoA β‐oxidation
Wanders, R. J. A., Vreken, P., den Boer, M. E. J., Wijburg, F. A., Van Gennip, A. H., & IJlst, L. (1999) · Journal of Inherited Metabolic Disease · doi:10.1023/a:1005504223140 · Cited by 257
Cappel, D. A., Deja, S., Duarte, J. A. G., Kucejova, B., Iñigo, M., Fletcher, J. A., Fu, X., Berglund, E. D., Liu, T., Elmquist, J. K., et al. (2019) · Cell Metabolism · doi:10.1016/j.cmet.2019.03.014 · Cited by 242
Chace, D. H., Kalas, T. A., & Naylor, E. W. (2002) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.3.022502.103213 · Cited by 210
Carnitine revisited: potential use as adjunctive treatment in diabetes
Power, R. A., Hulver, M. W., Zhang, J. Y., Dubois, J., Marchand, R. M., Ilkayeva, O., Muoio, D. M., & Mynatt, R. L. (2007) · Diabetologia · doi:10.1007/s00125-007-0605-4 · Cited by 113
Lien, L. F., Haqq, A. M., Arlotto, M., Slentz, C. A., Muehlbauer, M. J., McMahon, R. L., Rochon, J., Gallup, D., Bain, J. R., Ilkayeva, O., et al. (2009) · OMICS: A Journal of Integrative Biology · doi:10.1089/omi.2008.0035 · Cited by 97
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Metadata
- Authors
- Millington, D. S., Kodo, N., Norwood, D. L., & Roe, C. R.
- Venue
- Journal of Inherited Metabolic Disease
- Publisher
- Wiley
- Published
- 1990-05
- Volume
- 13
- Issue
- 3
- Pages
- 321-324
- ISSN
- 0141-8955 (ISSN-L)
- 1573-2665
- OpenAlex
- W2035416331
- Cited by
- 571
- References
- 0
- FWCI
- 3.15
- Type
- journal article
- Language
- en
- Open access
- closed
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