Display Settings:

Format

Send to:

Choose Destination
See comment in PubMed Commons below

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

Author information

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

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.

Copyright 2002 Elsevier Science B.V.

PMID:
12127323
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science
    Loading ...
    Write to the Help Desk