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Clinical Chemistry 41: 62-68, 1995;
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Clinical Chemistry, Vol 41, 62-68, Copyright © 1995 by American Association for Clinical Chemistry

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

DH Chace, SL Hillman, DS Millington, SG Kahler, CR Roe and EW Naylor
Department of Pediatrics, Duke University Medical Center, Research Triangle Park, NC 27709.

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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Copyright © 1995 by the American Association for Clinical Chemistry.