Lowes S, Rose M E
Department of Chemistry, Open University, Walton Hall, Milton Keynes, UK.
Analyst. 1990 May;115(5):511-6. doi: 10.1039/an9901500511.
Several inherited metabolic disorders, particularly the organic acidurias and acidemias, are often characterised by excretion of acylcarnitines, especially octanoylcarnitine, in the urine. Clinical investigation of such serious disorders ideally requires a rapid, simple and selective method for determining acylcarnitines in urine. Initial results are given here of a method that may approach this ideal. The procedure involves chemical derivatisation, in which the zwitterionic acylcarnitines are cyclised to volatile lactones, and analysis by gas chromatography and gas chromatography--mass spectrometry. Preparation of urine samples by ion-exchange purification and an illustrative application of the proposed method to a clinical sample are also outlined.
几种遗传性代谢紊乱，尤其是有机酸尿症和酸血症，其特征通常是尿液中排出酰基肉碱，特别是辛酰肉碱。对于此类严重疾病的临床研究，理想情况下需要一种快速、简单且选择性强的方法来测定尿液中的酰基肉碱。本文给出了一种可能接近这一理想状态的方法的初步结果。该方法包括化学衍生化，即将两性离子酰基肉碱环化形成挥发性内酯，然后通过气相色谱和气相色谱 - 质谱联用进行分析。还概述了通过离子交换纯化制备尿液样本的方法以及该方法在临床样本中的一个示例应用。
