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. 1995 Jan;41(1):62-8.

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

D H Chace  1 , S L Hillman, D S Millington, S G Kahler, C R Roe, E W Naylor
Affiliations
  • PMID: 7813082

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

D H Chace et al. Clin Chem. 1995 Jan.

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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