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

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  • 1Department of Health Science, School of Nursing, Fukui Medical University, Matsuoka-cho, 910-1193 Fukui, Japan. yosuke@fmsrsa.fukui-med.ac.jp


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.

Copyright 2002 Elsevier Science B.V.

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