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在干血斑中检测极长链脂肪酰肉碱用于X连锁肾上腺脑白质营养不良新生儿筛查的效用。

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

作者信息

Natarajan Archana, Christopher Rita, Palakuzhiyil Shruti V, Chandra Sadanandavalli Retnaswami

机构信息

Metabolic Laboratory, Department of Neurochemistry, National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru 560029, India.

Department of Neurology, National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, India.

出版信息

Mol Genet Metab Rep. 2021 Jan 30;26:100720. doi: 10.1016/j.ymgmr.2021.100720. eCollection 2021 Mar.

DOI:10.1016/j.ymgmr.2021.100720
PMID:33552912
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7851351/
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.

摘要

我们采用流动注射分析-串联质谱法测定干血斑中的C24:0和C26:0-肉碱，以评估它们是否可作为X连锁肾上腺脑白质营养不良（X-ALD）新生儿筛查的标志物。我们发现，C26:0-肉碱在识别男性X-ALD病例和杂合子女性时的敏感性分别为95.1%和44.7%。C24:0-肉碱（11/82）和C26:0-肉碱（4/82）均发现假阴性结果。我们得出结论，C24:0和C26:0-肉碱可能不是X-ALD筛查的可靠标志物。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/336a/7851351/edd117aa02cb/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/336a/7851351/edd117aa02cb/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/336a/7851351/edd117aa02cb/gr1.jpg

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Clin Chim Acta. 2020 Apr;503:157-162. doi: 10.1016/j.cca.2020.01.016. Epub 2020 Jan 21.
3
X-linked adrenoleukodystrophy: Pathology, pathophysiology, diagnostic testing, newborn screening and therapies.
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Orphanet J Rare Dis. 2023 May 2;18(1):102. doi: 10.1186/s13023-023-02673-x.
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