Winter S, Jue K, Prochazka J, Francis P, Hamilton W, Linn L, Helton E
Valley Children's Hospital, Fresno, CA. 93703, USA.
J Child Neurol. 1995 Nov;10 Suppl 2:S45-51.
Metabolic and genetic factors underlie some forms of cardiomyopathy in childhood. A variety of inborn errors of metabolism can impair mitochondrial energy production, or beta-oxidation, in the heart and lead to myocardial dysfunction. L-Carnitine, an essential element of beta-oxidation, transports fatty acids across the mitochondrial membrane for energy production. L-Carnitine deficiency syndromes are now well described as secondary to a variety of inborn errors of metabolism and often include cardiomyopathy in the clinical picture. Despite traditional therapies for cardiomyopathy, mortality for this disorder remains at well over 50%. Review of reports of L-Carnitine supplementation studies and results from our own trial underscore the importance of its role in cardiac function and demonstrates that there is likely a subpopulation of patients with cardiomyopathy responsive to L-carnitine treatment.
代谢和遗传因素是儿童期某些类型心肌病的基础。多种先天性代谢缺陷可损害心脏中的线粒体能量产生或β-氧化，并导致心肌功能障碍。左旋肉碱是β-氧化的必需元素，可将脂肪酸转运穿过线粒体膜以产生能量。左旋肉碱缺乏综合征现在已被充分描述为继发于多种先天性代谢缺陷，并且在临床表现中常包括心肌病。尽管有针对心肌病的传统疗法，但这种疾病的死亡率仍远高于50%。对左旋肉碱补充研究报告的回顾以及我们自己试验的结果强调了其在心脏功能中的重要作用，并表明可能有一部分心肌病患者对左旋肉碱治疗有反应。
