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

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

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • False Positive Reactions
  • Humans
  • Infant, Newborn
  • Isoleucine / blood
  • Leucine / blood
  • Maple Syrup Urine Disease / blood*
  • Mass Spectrometry / methods*
  • Mass Spectrometry / statistics & numerical data
  • Neonatal Screening / methods*
  • Paper
  • Phenylalanine / blood
  • Reference Values
  • Sensitivity and Specificity
  • Valine / blood

Substances

  • Isoleucine
  • Phenylalanine
  • Leucine
  • Valine