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Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry
Abstract
We report a new method for the diagnosis of maple syrup urine disease (MSUD) from dried blood spots on newborn screening cards based on tandem mass spectrometry (MS-MS). The mean +/- SD concentration of Leu plus Ile in normal newborns was 151 +/- 47 mumol/L (n = 1096); for Val, 131 +/- 58 mumol/L (n = 791). SDs were lower when the concentrations of these amino acids were expressed relative to that of Phe. The mean ratio for Leu + Ile to Phe was 2.5 +/- 0.49; for Val to Phe, 2.18 +/- 0.51. These results compare well with values previously reported in the literature. With these criteria, samples from a collection categorized by a bacterial inhibition assay as normal or falsely positive for MSUD were normal by MS-MS [(Leu + Ile): Phe < 5.0]. Samples from confirmed MSUD patients were categorized as abnormal [(Leu+Ile): Phe > 9.0] by MS-MS.
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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-citationUse of Tandem Mass Spectrometry for Multianalyte Screening of Dried Blood Specimens from Newborns
Chace, D. H., Kalas, T. A., & Naylor, E. W. (2003) · Clinical Chemistry · doi:10.1373/clinchem.2003.022178 · Cited by 621
Self-citationDried blood spot sampling in combination with LC‐MS/MS for quantitative analysis of small molecules
Li, W., & Tse, F. L. S. (2010) · Biomedical Chromatography · doi:10.1002/bmc.1367 · Cited by 599
Shah, S. H., Bain, J. R., Muehlbauer, M. J., Stevens, R. D., Crosslin, D. R., Haynes, C., Dungan, J., Newby, L. K., Hauser, E. R., Ginsburg, G. S., et al. (2010) · Circulation: Cardiovascular Genetics · doi:10.1161/circgenetics.109.852814 · Cited by 465
Metabolic Fingerprinting As A Diagnostic Tool
Ellis, D. I., Dunn, W. B., Griffin, J. L., Allwood, J. W., & Goodacre, R. (2007) · Pharmacogenomics · doi:10.2217/14622416.8.9.1243 · Cited by 396
Metadata
- Authors
- Chace, D. H., Hillman, S. L., Millington, D. S., Kahler, S. G., Roe, C. R., & Naylor, E. W.
- Venue
- Clinical Chemistry
- Publisher
- Oxford University Press (OUP)
- Published
- 1995-01-01
- Volume
- 41
- Issue
- 1
- Pages
- 62-68
- ISSN
- 0009-9147 (ISSN-L)
- 1530-8561
- OpenAlex
- W2167779832
- Cited by
- 219
- References
- 0
- FWCI
- 2.84
- Type
- journal article
- Language
- en
- Open access
- closed
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- Chace, D. H., Hillman, S. L., Millington, D. S., Kahler, S. G., Roe, C. R., & Naylor, E. W. (1995). Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry. Clinical Chemistry. https://doi.org/10.1093/clinchem/41.1.62
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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