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Carnitine transporter defect diagnosed by newborn screening with electrospray tandem mass spectrometry

Authors
Journal
The Journal of Pediatrics
0022-3476
Publisher
Elsevier
Volume
138
Issue
4
Identifiers
DOI: 10.1067/mpd.2001.111813
Disciplines
  • Medicine

Abstract

Abstract The carnitine transporter defect is a potentially fatal but treatable disorder. We used electrospray tandem mass spectrometry in the New South Wales (Australia) Newborn Screening Programme to measure free carnitine and acylcarnitine species in the newborn population. Free carnitine levels in dried blood samples from 149,000 neonates did not vary markedly between 2 and 8 days of age. Two of 4 babies subsequently diagnosed clinically with the carnitine transporter defect had a free carnitine level in the neonatal blood sample low enough to be detected by screening. (J Pediatr 2001;138:581-4)

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