Siliprandi N, Di Lisa F, Menabó R, Ciman M, Sartorelli L
Dipartimento di Chimica Biologica, Università di Padova.
J Clin Chem Clin Biochem. 1990 May;28(5):303-6.
The transport, function and metabolism of carnitine are discussed with regard to their importance in clinical chemistry. In humans carnitine is synthesized from protein-derived trimethyllysine in liver, brain and kidney. Muscles take up carnitine from the blood in an exchange-diffusion process with endogenous deoxycarnitine, the immediate precursor of carnitine. Besides catalysing the transport of long-chain acyl groups in mitochondria, carnitine is necessary for the export of intramitochondrially produced short-chain acyl residues and for the trapping and the elimination of unphysiological compounds (benzoic, pivalic, valproic acids etc.). The detection and quantitation in urine of these physiological and unphysiological carnitine esters is necessary for the diagnosis of carnitine deficiencies. The carnitine esters may be eliminated in the urine and/or distributed in tissues, where some of them (acetyl-, propionyl- and isovaleryl-carnitine) may be utilized for specific purposes. The most important carnitine-dependent metabolic disorders are listed according to their causes.
就肉碱在临床化学中的重要性，对其转运、功能及代谢进行了讨论。在人类中，肉碱由肝脏、大脑和肾脏中蛋白质衍生的三甲基赖氨酸合成。肌肉通过与内源性脱氧肉碱（肉碱的直接前体）进行交换扩散过程从血液中摄取肉碱。除了催化线粒体中长链酰基的转运外，肉碱对于线粒体内产生的短链酰基残基的输出以及捕获和消除非生理性化合物（苯甲酸、新戊酸、丙戊酸等）也是必需的。检测和定量尿液中这些生理性和非生理性肉碱酯对于诊断肉碱缺乏症是必要的。肉碱酯可能会在尿液中排出和/或分布于组织中，其中一些（乙酰肉碱、丙酰肉碱和异戊酰肉碱）可能会用于特定目的。根据病因列出了最重要的肉碱依赖性代谢紊乱。
