Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan.

Abstract

Electrospray tandem mass spectrometry was applied to detect a series of inherited metabolic disorders during a newborn-screening pilot study and a selective screening in Japan. In our mass screening of 102,200 newborns, five patients with propionic acidemia, two with methylmalonic acidemia, two with medium-chain acyl-CoA dehydrogenase deficiency, three with citrullinemia type II, and one with phenylketonuria were identified. In a selective screening of 164 patients with symptoms mainly related to hypoglycemia and/or hyperammonemia, 12 with fatty acid oxidation disorders and six with other disorders were found. The results indicated the importance of newborn screening using this technology in Japan.

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@article{Shigematsu2002NewbornMS, title={Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan.}, author={Yosuke Shigematsu and Satoko Hirano and Ikue Hata and Yukie Tanaka and Masakatsu Sudo and Nobuo Sakura and Tsuyoshi Tajima and Seiji Yamaguchi}, journal={Journal of chromatography. B, Analytical technologies in the biomedical and life sciences}, year={2002}, volume={776 1}, pages={39-48} }