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.
Department of Health Science, School of Nursing, Fukui Medical University, Matsuoka-cho, 910-1193 Fukui, Japan. yosuke@fmsrsa.fukui-med.ac.jp
Yosuke
Y
Shigematsu
Satoko
S
Hirano
Ikue
I
Hata
Yukie
Y
Tanaka
Masakatsu
M
Sudo
Nobuo
N
Sakura
Tsuyoshi
T
Tajima
Seiji
S
Yamaguchi
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*