Acylcarnitines: Analysis in Plasma and Whole Blood Using Tandem Mass Spectrometry
Acylcarnitines: Analysis in Plasma and Whole Blood Using Tandem Mass Spectrometry
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DOI：
10.1007/978-1-61737-985-7_3
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发表时间：
2011-01-01
期刊：
影响因子：
--
通讯作者：
Stevens, Robert D.
中科院分区：
文献类型：
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作者：
Millington, David S.;Stevens, Robert D.
酰基肉碱谱是脂肪酸和支链氨基酸分解代谢遗传性疾病的诊断测试。患有此类代谢紊乱的患者会积聚疾病特异性酰基肉碱，这些酰基肉碱与受影响的线粒体代谢途径中的酰基辅酶 A 化合物相关。例如，丙酰肉碱在患有丙酸血症和甲基丙二酸血症的患者中蓄积。该测试可识别并量化有患此类疾病风险或疑似患有此类疾病的患者全血或血浆中酰基肉碱的种类。使用电喷雾电离串联质谱法分析酰基肉碱。该仪器在母离子扫描模式下使用，记录产生 m/z 99 碎片离子的分子种类，这些碎片离子专门源自样本内的甲基化酰基肉碱。定量基于稳定同位素稀释的原理，其中浓度源自每种酰基肉碱与氘标记酰基肉碱标准品的响应比。酰基肉碱谱的解释需要识别特定分析物的异常浓度或分析物模式并了解其代谢起源。
The acylcarnitine profile is a diagnostic test for inherited disorders of fatty acid and branched-chain amino acid catabolism. Patients with this type of metabolic disorder accumulate disease-specific acylcarnitines that correlate with the acyl coenzyme A compounds in the affected mitochondrial metabolic pathways. For example, propionylcarnitine accumulates in patients with both propionic and methylmalonic acidemias. The test identifies and quantifies the species of acylcarnitines in the whole blood or blood plasma of patients at risk for or suspected of having such a disorder. The acylcarnitines are analyzed using electrospray ionization tandem mass spectrometry. The instrument is used in the precursor ion scan mode to record the molecular species giving rise to fragment ions at m/z 99, derived specifically from the methylated acylcarnitines within the specimen. Quantification is based on the principle of stable isotope dilution, whereby concentrations are derived from the response ratio of each acylcarnitine species to that of a deuterium-labeled acylcarnitine standard. Interpretation of the acylcarnitine profile requires recognition of abnormal concentrations of specific analytes or patterns of analytes and knowledge of their metabolic origin.