Biomarker discovery and implementation are at the forefront of the precision medicine movement. Modern advances in the field of metabolomics afford the opportunity to readily identify new metabolite biomarkers across a wide array of disciplines. Many of the metabolites are derived from or directly reflective of mitochondrial metabolism. L-carnitine and acylcarnitines are established mitochondrial biomarkers used to screen neonates for a series of genetic disorders affecting fatty acid oxidation, known as the inborn errors of metabolism. However, L-carnitine and acylcarnitines are not routinely measured beyond this screening, despite the growing evidence that shows their clinical utility outside of these disorders. Measurements of the carnitine pool have been used to identify the disease and prognosticate mortality among disorders such as diabetes, sepsis, cancer, and heart failure, as well as identify subjects experiencing adverse drug reactions from various medications like valproic acid, clofazimine, zidovudine, cisplatin, propofol, and cyclosporine. The aim of this review is to collect and interpret the literature evidence supporting the clinical biomarker application of L-carnitine and acylcarnitines. Further study of these metabolites could ultimately provide mechanistic insights that guide therapeutic decisions and elucidate new pharmacologic targets.

中文翻译：

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左旋肉碱和酰基肉碱：精准医学的线粒体生物标志物


生物标志物的发现和实施处于精准医学运动的前沿。代谢组学领域的现代进步提供了在多个学科中轻松识别新代谢物生物标志物的机会。许多代谢物源自或直接反映线粒体代谢。左旋肉碱和酰基肉碱是已建立的线粒体生物标志物，用于筛查新生儿是否存在一系列影响脂肪酸氧化的遗传性疾病，即先天性代谢缺陷。然而，尽管越来越多的证据表明左旋肉碱和酰基肉碱在这些疾病之外的临床用途，但在筛查之外并未常规测量它们。肉碱库的测量已用于识别疾病并预测糖尿病、败血症、癌症和心力衰竭等疾病的死亡率，以及识别因丙戊酸、氯法齐明、齐多夫定、顺铂等各种药物而出现药物不良反应的受试者、异丙酚和环孢素。本综述的目的是收集和解释支持左旋肉碱和酰基肉碱临床生物标志物应用的文献证据。对这些代谢物的进一步研究最终可以提供指导治疗决策和阐明新药理靶点的机制见解。