Buist Neil R M
Department of Pediatrics and Medical Genetics, Oregon Health and Science University, Portland, Oreg., USA.
Ann Nutr Metab. 2016;68 Suppl 3:1-4. doi: 10.1159/000448320. Epub 2016 Dec 9.
The metabolic roles of carnitine have been greatly clarified over the past 50 years, and it is now well established that carnitine is a key player in mitochondrial generation of energy and metabolism of acetyl coenzyme A. A therapeutic role for carnitine in treatment of nutritional deficiencies in infants and children was first demonstrated in 1958, and since that time it has been used to treat a number of inborn errors of metabolism. Carnitine was approved by the US Food and Drug Administration in 1985 for treatment of 'primary carnitine deficiency', and later in 1992 for treatment of 'secondary carnitine deficiency', a definition that included the majority of relevant metabolic disorders associated with low or abnormal plasma carnitine levels. Today, carnitine treatment of inborn errors of metabolism is a safe and integral part of many treatment protocols, and a growing interest in carnitine has resulted in greater recognition of many causes of carnitine depletion. Notwithstanding, there is still a lack of data from randomized clinical trials, even on the use of carnitine in inborn errors of metabolism, although ethical issues may be a contributing factor in this regard.
在过去50年里,肉碱的代谢作用已得到极大阐明,现在已明确肉碱是线粒体能量生成及乙酰辅酶A代谢的关键参与者。1958年首次证明肉碱在治疗婴幼儿营养缺乏方面具有治疗作用,自那时起它就被用于治疗多种先天性代谢缺陷。1985年,美国食品药品监督管理局批准肉碱用于治疗“原发性肉碱缺乏症”,随后在1992年批准用于治疗“继发性肉碱缺乏症”,这一定义涵盖了大多数与血浆肉碱水平低或异常相关的代谢紊乱。如今,肉碱治疗先天性代谢缺陷是许多治疗方案中安全且不可或缺的一部分,对肉碱的兴趣日益浓厚,使得人们更多地认识到肉碱缺乏的多种原因。尽管如此,即使是关于肉碱在先天性代谢缺陷中的应用,仍缺乏来自随机临床试验的数据,尽管伦理问题可能是这方面的一个促成因素。