Normal acylcarnitine levels during confirmation of abnormal newborn screening in long-chain fatty acid oxidation defects.
We report two infants identified by tandem mass spectrometry (MS/MS) of neonatal blood spot acylcarnitines and confirmed by molecular genetic analysis to have long-chain fatty acid oxidation defects. In both cases, acylcarnitine concentrations in confirmatory plasma samples were normal. None the less, molecular testing identified trifunctional protein (TFP) deficiency (McKusick 600890) and very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (McKusick 201475).
Browning
M F
MF
Department of Metabolism, Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA.
Larson
C
C
Strauss
A
A
Marsden
D L
DL
D044942:Acyl-CoA Dehydrogenase, Long-Chain / Q000097:blood*; D002331:Carnitine / Q000031:analogs & derivatives* / Q000097:blood / Q000592:standards; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis*; D008297:Male; D013058:Mass Spectrometry; D063991:Mitochondrial Trifunctional Protein; D009097:Multienzyme Complexes / Q000172:deficiency*; D009154:Mutation; D015997:Neonatal Screening / Q000379:methods*; D010100:Oxygen / Q000378:metabolism; D013997:Time Factors
D009097:Multienzyme Complexes; C116917:acylcarnitine; D044942:Acyl-CoA Dehydrogenase, Long-Chain; D063991:Mitochondrial Trifunctional Protein; D002331:Carnitine; D010100:Oxygen