Carnitine transporter defect diagnosed by newborn screening with electrospray tandem mass spectrometry.
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.
Wilcken
B
B
New South Wales Newborn Screening and Biochemical Genetics Services, The New Children's Hospital, Westmead, Sydney, Australia.
Wiley
V
V
Sim
K G
KG
Carpenter
K
K
D001724:Birth Weight; D002331:Carnitine / Q000031:analogs & derivatives* / Q000097:blood / Q000172:deficiency*; D002352:Carrier Proteins / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening; D027701:Organic Cation Transport Proteins; D000074058:Solute Carrier Family 22 Member 5; D021241:Spectrometry, Mass, Electrospray Ionization
D002352:Carrier Proteins; D027701:Organic Cation Transport Proteins; C492020:SLC22A5 protein, human; D000074058:Solute Carrier Family 22 Member 5; C116917:acylcarnitine; D002331:Carnitine