Nasser Mona, Javaheri Hoda, Fedorowicz Zbys, Noorani Zaman
Department of Health Information, Institute for Quality and Efficiency in Health care, Dillenburger Street, 27, D-51105, Köln, Germany, D-51105.
Cochrane Database Syst Rev. 2009 Apr 15(2):CD006659. doi: 10.1002/14651858.CD006659.pub2.
Inborn errors of metabolism are genetic conditions which can lead to abnormalities in the synthesis and metabolism of proteins, carbohydrates, or fats. It has been proposed that in some instances carnitine supplementation should be provided to infants with a suspected metabolic disease as an interim measure, particularly whilst awaiting test results. Carnitine supplementation is used in the treatment of primary carnitine deficiency, and also where the deficiency is a secondary complication of several inborn errors of metabolism, such as organic acidaemias and fatty acid oxidation defects in children and adults.
To assess the effectiveness and safety of carnitine supplementation in the treatment of inborn errors of metabolism.
We searched the Cystic Fibrosis and Genetic Disorders Group's Inborn Errors of Metabolism Trials Register, the Cochrane Central Register of Controlled Trials (The Cochrane Library 2007, Issue 4) and MEDLINE via Ovid (1950 to July week 4 2007), LILACS (15/05/2008) and Iranmedex (15/05/2008) and also the reference lists of retrieved articles.Date of most recent search of the Group's Inborn Errors of Metabolism Register: 27 October 2008.
Randomised controlled trials and quasi-randomised controlled trials comparing carnitine supplementation (in different dose, frequency, or duration) versus placebo in children and adults diagnosed with an inborn error of metabolism.
Two authors independently screened and assessed the eligibility of the identified trials.
No trials were included in the review.
AUTHORS' CONCLUSIONS: There are no published or ongoing randomised controlled clinical trials relevant to this review question. Therefore, in the absence of any high level evidence, clinicians should base their decisions on clinical experience and in conjunction with preferences of the individual where appropriate. This does not mean that carnitine is ineffective or should not be used in any inborn error of metabolism. However, given the lack of evidence both on the effectiveness and safety of carnitine and on the necessary dose and frequency to be prescribed, the current prescribing practice should continue to be observed and monitored with care until further evidence is available. Methodologically sound trials, reported according to the Consolidated Standards of Reporting Trials (CONSORT) statement, are required. It should be considered whether placebo-controlled trials in potentially lethal diseases, e.g. carnitine transporter disorder or glutaric aciduria type I, are ethical.
先天性代谢缺陷是一种遗传疾病，可导致蛋白质、碳水化合物或脂肪的合成及代谢异常。有人提出，在某些情况下，应将补充肉碱作为一项临时措施提供给疑似患有代谢疾病的婴儿，尤其是在等待检测结果期间。补充肉碱用于治疗原发性肉碱缺乏症，以及在缺乏症是几种先天性代谢缺陷（如儿童和成人的有机酸血症和脂肪酸氧化缺陷）的继发性并发症时使用。
评估补充肉碱治疗先天性代谢缺陷的有效性和安全性。
我们检索了囊性纤维化和遗传疾病组的先天性代谢缺陷试验注册库、Cochrane对照试验中央注册库（《Cochrane图书馆》2007年第4期）以及通过Ovid检索的MEDLINE（1950年至2007年7月第4周）、LILACS（2008年5月15日）和Iranmedex（2008年5月15日），并检索了检索文章的参考文献列表。该组先天性代谢缺陷注册库的最近检索日期：2008年10月27日。
比较补充肉碱（不同剂量、频率或疗程）与安慰剂对诊断为先天性代谢缺陷的儿童和成人的随机对照试验和半随机对照试验。
两名作者独立筛选并评估所确定试验的合格性。
本综述未纳入任何试验。
没有已发表或正在进行的与本综述问题相关的随机对照临床试验。因此，在缺乏任何高级别证据的情况下，临床医生应根据临床经验并在适当情况下结合个人偏好做出决策。这并不意味着肉碱无效或不应在任何先天性代谢缺陷中使用。然而，鉴于缺乏关于肉碱有效性和安全性以及规定的必要剂量和频率的证据，在获得进一步证据之前，应继续谨慎观察和监测当前的用药实践。需要进行根据试验报告统一标准（CONSORT）声明报告的方法学上合理的试验。应考虑在潜在致命疾病（如肉碱转运体疾病或I型戊二酸血症）中进行安慰剂对照试验是否符合伦理。
