Utility of measuring very long-chain fatty-acyl carnitines in dried blood spots for newborn screening of X-linked Adrenoleukodystrophy

利用干血斑中极长链脂肪酰肉碱的测定进行新生儿X连锁肾上腺脑白质营养不良筛查

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Abstract

We measured C24:0 and C26:0-carnitines in dried blood spots by flow injection analysis-tandem mass spectrometry method to evaluate whether they can be used as markers for newborn screening of X-linked Adrenoleukodystrophy (X-ALD). We found that C26:0-carnitine was 95.1% and 44.7% sensitive for identifying male X-ALD cases and heterozygous females, respectively. False negatives were found for C24:0-carnitine (11/82) and C26:0-carnitine (4/82). We conclude that C24:0 and C26:0-carnitines may not be reliable markers for X-ALD screening.

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