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

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Chace, DH; Hillman, SL; Millington, DS; Kahler, SG; Roe, CR; Naylor, EW

Published Date

  • January 1995

Published In

Volume / Issue

  • 41 / 1

Start / End Page

  • 62 - 68

PubMed ID

  • 7813082

International Standard Serial Number (ISSN)

  • 0009-9147


  • eng

Conference Location

  • England