Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity.

Molecular Genetics and Metabolism(2017)

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摘要
•Despite the high frequency among fatty acid oxidation disorders, newborn screening for CPT II deficiency has not been fully established.•The ratio of (C16+C18:1) to C2 in newborn dried blood specimens can serve as a useful index provided that the cutoff is set sufficiently low.•In order to achieve adequate sensitivity to avoid false-negative cases, a considerable increase in false-positive cases seems inevitable.•Using additional indices such as C14/C3 is a promising way of reducing the false-positive rate.
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关键词
CPT II deficiency,Tandem mass spectrometry,Newborn screening,Japanese,False-negative,False-positive
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