Development of useful second-tier tests for newborn screening by tandem mass spectrometry

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As nation-wide newborn screening for inherited metabolic disorders using tandem mass spectrometry has been recently started in Japan, and distributions of measured screening marker values in dried blood spots of healthy newborns vary considerably among screening laboratories, the importance of quality assurance system has been recognized. In order to minimize false negative cases, we have adjusted the cut-off values for conventional markers and new markers for CPT2 deficiency and methylmalonic acidemia among laboratories. We also have developed the serum acylcarnitine analysis to the cases positive for fatty acid oxidation disorders, in combination with the fatty acid oxidation test using lymphocytes and tandem mass spectrometry, and the new methods to measure organic acids in dried blood spots by gas chromatography-mass spectrometry for the diagnosis of B12-responsive methylmalonic acidemia, propionic acidemia, isovaleric acidemia, glutaric acidemia and maple syrup urine disease.