作为长链3-羟基酰基-CoA脱氢酶缺乏的可靠指标的新酰基肉碱比率。

IF 4 Q1 GENETICS & HEREDITY
Galina V Baydakova, Polina G Tsygankova, Natalia L Pechatnikova, Olga A Bazhanova, Yana D Nazarenko, Ekaterina Y Zakharova
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引用次数: 0

摘要

长链3-羟基酰基-CoA脱氢酶(LCHAD)和线粒体三功能蛋白(MTP)缺乏是脂肪酸β-氧化的罕见致命疾病,没有明显的基因型-表型相关性。通过MS/MS测量酰基肉毒碱是目前对这些疾病的诊断工作。尽管如此,仍有假阳性和假阴性结果的报道,这突出了需要更敏感和特异的生物标志物。这项研究包括54名已通过生化和分子方法证实的LCHAD/MTP缺乏症患者。使用ESI-MS/MS对干燥血斑中的酰基肉毒碱进行分析。与对照组相比,所有54名受影响个体的“HADHA比率”=(C16OH+C18OH+C18:1OH)/C0均显著升高。除了54名LCHAD缺乏症患者外,还计算了19名超长链酰基辅酶A脱氢酶(VLCAD)缺乏症患者的“HADHA比率”。由于VLCAD缺陷患者没有表现出“HADHA比率”的增加,结果强调了这一新比率的高度特异性。因此,“HADHA比率”被证明有助于提高基于MS/MS的酰基肉碱水平分析在诊断LCHAD/MTP缺陷中的整体性能。该比率被证明可以提高该方法的灵敏度和特异性,并减少假阴性结果的机会。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

New Acylcarnitine Ratio as a Reliable Indicator of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency.

New Acylcarnitine Ratio as a Reliable Indicator of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency.

Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) and mitochondrial trifunctional protein (MTP) deficiencies are rare fatal disorders of fatty acid β-oxidation with no apparent genotype-phenotype correlation. The measurement of acylcarnitines by MS/MS is a current diagnostic workup in these disorders. Nevertheless, false-positive and false-negative results have been reported, highlighting a necessity for more sensitive and specific biomarkers. This study included 54 patients with LCHAD/MTP deficiency that has been confirmed by biochemical and molecular methods. The analysis of acylcarnitines in dried blood spots was performed using ESI-MS/MS. The established "HADHA ratio" = (C16OH + C18OH + C18:1OH)/C0 was significantly elevated in all 54 affected individuals in comparison to the control group. Apart from 54 LCHAD deficiency patients, the "HADHA ratio" was calculated in 19 patients with very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency. As VLCAD-deficient patients did not show increased "HADHA ratio", the results emphasized the high specificity of this new ratio. Therefore, the "HADHA ratio" was shown to be instrumental in improving the overall performance of MS/MS-based analysis of acylcarnitine levels in the diagnostics of LCHAD/MTP deficiencies. The ratio was demonstrated to increase the sensitivity and specificity of this method and reduce the chances of false-negative results.

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来源期刊
International Journal of Neonatal Screening
International Journal of Neonatal Screening Medicine-Pediatrics, Perinatology and Child Health
CiteScore
6.70
自引率
20.00%
发文量
56
审稿时长
11 weeks
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