Normal acylcarnitine levels during confirmation of abnormal newborn screening in long‐chain fatty acid oxidation defects

Summary 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...

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Bibliographic Details
Published in:Journal of inherited metabolic disease 2005-08, Vol.28 (4), p.545-550
Main Authors: Browning, M. F., Larson, C., Strauss, A., Marsden, D. L.
Format: Article
Language:English
Subjects:
Acyl-CoA Dehydrogenase, Long-Chain - blood
Biological and medical sciences
Carnitine - analogs & derivatives
Carnitine - blood
Carnitine - standards
Feeding. Feeding behavior
Fundamental and applied biological sciences. Psychology
Genetics of eukaryotes. Biological and molecular evolution
Genotype
Humans
Infant, Newborn
Lipid Metabolism, Inborn Errors - diagnosis
Male
Mass Spectrometry
Mitochondrial Trifunctional Protein
Molecular and cellular biology
Multienzyme Complexes - deficiency
Mutation
Neonatal Screening - methods
Oxygen - metabolism
Time Factors
Vertebrates: anatomy and physiology, studies on body, several organs or systems
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Summary:Summary 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).
ISSN:0141-8955
1573-2665
DOI:10.1007/s10545-005-0545-4