Artículos de revistas
Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan
Fecha
2002Autor
Shigematsu, Yosuke
Hirano, Satoko
Hata, Ikue
Tanaka, Yukie
Sudo, Masakatsu
Sakura, Nobuo
Tajima, Tsuyoshi
Yamaguchi, Seiji
Institución
Resumen
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.