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Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry.

Publication ,  Journal Article
Chace, DH; Hillman, SL; Millington, DS; Kahler, SG; Roe, CR; Naylor, EW
Published in: Clin Chem
January 1995

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.

Duke Scholars

Published In

Clin Chem

ISSN

0009-9147

Publication Date

January 1995

Volume

41

Issue

1

Start / End Page

62 / 68

Location

England

Related Subject Headings

  • Valine
  • Sensitivity and Specificity
  • Reference Values
  • Phenylalanine
  • Paper
  • Neonatal Screening
  • Mass Spectrometry
  • Maple Syrup Urine Disease
  • Leucine
  • Isoleucine
 

Citation

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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. Clin Chem, 41(1), 62–68.
Chace, D. H., S. L. Hillman, D. S. Millington, S. G. Kahler, C. R. Roe, and E. W. Naylor. “Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry.Clin Chem 41, no. 1 (January 1995): 62–68.
Chace DH, Hillman SL, Millington DS, Kahler SG, Roe CR, Naylor EW. Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry. Clin Chem. 1995 Jan;41(1):62–8.
Chace, D. H., et al. “Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry.Clin Chem, vol. 41, no. 1, Jan. 1995, pp. 62–68.
Chace DH, Hillman SL, Millington DS, Kahler SG, Roe CR, Naylor EW. Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry. Clin Chem. 1995 Jan;41(1):62–68.

Published In

Clin Chem

ISSN

0009-9147

Publication Date

January 1995

Volume

41

Issue

1

Start / End Page

62 / 68

Location

England

Related Subject Headings

  • Valine
  • Sensitivity and Specificity
  • Reference Values
  • Phenylalanine
  • Paper
  • Neonatal Screening
  • Mass Spectrometry
  • Maple Syrup Urine Disease
  • Leucine
  • Isoleucine