Lowes S, Rose M E, Mills G A, Pollitt R J
Departmen of Chemistry, Open University, Milton Keynes, UK.
J Chromatogr. 1992 Jun 10;577(2):205-14. doi: 10.1016/0378-4347(92)80241-h.
Many disorders of organic acid metabolism are associated with abnormalities in the levels of acylcarnitines excreted in urine. Profiling of urinary acylcarnitines allows diagnosis and characterisation of many acidurias and acidemias, monitoring dietary treatment of such patients, and elucidation of the metabolism of some exogenous acidic compounds. Urine (ca. 0.5 ml) was subjected to a simple work-up by ion-exchange chromatography, and the isolated acylcarnitines were derivatized by cyclization in 35 min to give volatile lactones that are compatible with gas chromatography-mass spectrometry using electron or chemical ionization. The feasibility of this new and affordable procedure has been confirmed by identifying urinary acylcarnitines in cases of medium-chain acyl-coenzyme A dehydrogenase deficiency, propionic acidemia and isovaleric acidemia.
许多有机酸代谢紊乱与尿液中排出的酰基肉碱水平异常有关。尿液酰基肉碱分析有助于诊断和鉴定多种酸尿症和酸血症，监测此类患者的饮食治疗，并阐明一些外源性酸性化合物的代谢情况。取约0.5 ml尿液，通过离子交换色谱法进行简单预处理，分离得到的酰基肉碱在35分钟内通过环化反应衍生化为挥发性内酯，这些内酯适用于采用电子或化学电离的气相色谱-质谱联用分析。通过在中链酰基辅酶A脱氢酶缺乏症、丙酸血症和异戊酸血症病例中鉴定尿液酰基肉碱，证实了这一新型且经济实惠方法的可行性。
