Format

Send to

Choose Destination
J Pediatr. 2001 Apr;138(4):581-4.

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

Author information

1
New South Wales Newborn Screening and Biochemical Genetics Services, The New Children's Hospital, Westmead, Sydney, Australia.

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.

PMID:
11295726
DOI:
10.1067/mpd.2001.111813
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center