Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan.
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.
Shigematsu
Yosuke
Y
Department of Health Science, School of Nursing, Fukui Medical University, Matsuoka-cho, 910-1193 Fukui, Japan. yosuke@fmsrsa.fukui-med.ac.jp
Hirano
Satoko
S
Hata
Ikue
I
Tanaka
Yukie
Y
Sudo
Masakatsu
M
Sakura
Nobuo
N
Tajima
Tsuyoshi
T
Yamaguchi
Seiji
S
D006801:Humans; D007231:Infant, Newborn; D007564:Japan; D008403:Mass Screening / Q000379:methods*; D008661:Metabolism, Inborn Errors / Q000145:classification / Q000175:diagnosis*; D015997:Neonatal Screening / Q000379:methods*; D010865:Pilot Projects; D021241:Spectrometry, Mass, Electrospray Ionization / Q000379:methods*