Department of Mental Health, University of South Carolina School of Medicine, Columbia, SC, USA.
Neurol Sci. 2013 Jan;34(1):93-8. doi: 10.1007/s10072-012-0952-x.
Along with antioxidant properties, carnitine is an important regulator of lipid metabolism in humans. While beneficial effects of carnitine have been demonstrated in animal models of Huntington's disease (HD), metabolism of carnitine has not been studied in humans with this illness. In this retrospective database review from 23 patients admitted to a HD-specialized nursing home unit, we found a relatively high prevalence of hypocarnitinemia (6 cases, 26%). Our review suggests that catabolism and chronic valproate use predisposed our patients to develop hypocarnitinemia. The patients with low serum carnitine levels who received levocarnitine supplementation, during a mean period of 7.3 months, showed improvement in motor, cognitive and behavioral measures. We hypothesize that observed improvement related to the resolution of reversible metabolic encephalopathy and myopathy associated with secondary carnitine deficiency. In conclusion, notwithstanding its limitations, this is the first study to report measurements of carnitine levels in HD patients, revealing relatively high prevalence of hypocarnitinemia in our population. Our findings suggest that HD patients with hypocarnitinemia may benefit from low-dose levocarnitine supplementation. Further studies of carnitine metabolism and supplementation in HD patients are warranted.
除了抗氧化特性，肉碱也是人类脂质代谢的重要调节剂。虽然肉碱对亨廷顿病（HD）的动物模型具有有益作用，但尚未在患有该病的人类中研究肉碱的代谢。在这项对 23 名入住 HD 专科疗养院的患者的回顾性数据库研究中，我们发现低肉碱血症的发病率相对较高（6 例，26%）。我们的综述表明，分解代谢和慢性丙戊酸的使用使我们的患者容易发生低肉碱血症。在平均 7.3 个月的时间里，接受左卡尼汀补充治疗的低血清肉碱水平患者在运动、认知和行为方面的指标均有所改善。我们假设观察到的改善与可逆代谢性脑病和继发性肉碱缺乏相关的肌病相关。总之，尽管存在局限性，但这是第一项报告 HD 患者肉碱水平测量的研究，显示我们人群中低肉碱血症的发病率相对较高。我们的研究结果表明，低肉碱血症的 HD 患者可能受益于低剂量左卡尼汀补充治疗。有必要对 HD 患者的肉碱代谢和补充进行进一步研究。
