Determination of total homocysteine, methylmalonic acid, and 2-methylcitric acid in dried blood spots by tandem mass spectrometry.

@article{Turgeon2010DeterminationOT,
  title={Determination of total homocysteine, methylmalonic acid, and 2-methylcitric acid in dried blood spots by tandem mass spectrometry.},
  author={Coleman T. Turgeon and Mark J. Magera and Carla D. Cuthbert and Perry R Loken and Dimitar K. Gavrilov and Silvia Tortorelli and Kimiyo M Raymond and Devin Oglesbee and Piero Rinaldo and Dietrich Matern},
  journal={Clinical chemistry},
  year={2010},
  volume={56 11},
  pages={1686-95}
}
BACKGROUND Newborn screening (NBS) for inborn errors of propionate, methionine, and cobalamin metabolism relies on finding abnormal concentrations of methionine and propionylcarnitine. These analytes are not specific for these conditions and lead to frequent false-positive results. More specific markers are total homocysteine (tHCY), methylmalonic acid (MMA), and methylcitric acid (MCA), but these markers are not detected by current NBS methods. To improve this situation, we developed a method… CONTINUE READING
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