Takeda Yoko, Kubota Masaru, Sato Hinako, Nagai Ayako, Higashiyama Yukie, Kin Hajime, Kawaguchi Chiharu, Tomiwa Kiyotaka
Department of Pediatrics, Todaiji Medical and Education Center, Nara, Japan.
Faculty of Human Life and Environment, Nara Women's University, Nara, Japan.
Brain Dev. 2015 Jan;37(1):94-100. doi: 10.1016/j.braindev.2014.03.012. Epub 2014 Apr 18.
Carnitine plays a pivotal role in a variety of cellular functions. Carnitine deficiency often occurs in severely disabled patients, especially under valproic acid administration. However, the possible causative factors underlying carnitine deficiency have not been fully identified. The present study aimed at clarifying the association of various anthropometric and biochemical variables, including dietary intake of carnitine, with carnitine levels in severely disabled patients.
Twenty-six severely disabled patients (mean age: 14.1 years; s.d. 7.8) were enrolled. Plasma carnitine levels were evaluated by an enzyme cycling assay. Estimation of the dietary intake of carnitine was made based on dietary records over a 3-day period.
Plasma total and free carnitine levels in patients were significantly lower than those in controls obtained from the previous report. However, the ratios of free carnitine to total carnitine did not change significantly. Free carnitine levels were well correlated with a nutritional intake of carnitine. Administration of not only valproic acid but also other anti-epileptic drugs was found to cause a significant decrease of free carnitine levels after adjusting the nutritional intake of carnitine. Among various anthropometric or biochemical variables, albumin and uric acid showed a significant correlation with free carnitine levels.
Physicians should be aware of the fact that severely disabled patients are at risk for carnitine deficiency even in the absence of valproic acid administration, and pay more attention to the nutritional intake of carnitine.
肉碱在多种细胞功能中起关键作用。肉碱缺乏症常发生在严重残疾患者中,尤其是在服用丙戊酸的情况下。然而,肉碱缺乏症潜在的致病因素尚未完全明确。本研究旨在阐明各种人体测量学和生化变量,包括肉碱的饮食摄入量,与严重残疾患者肉碱水平之间的关联。
招募了26名严重残疾患者(平均年龄:14.1岁;标准差7.8)。通过酶循环法评估血浆肉碱水平。根据3天的饮食记录估算肉碱的饮食摄入量。
患者的血浆总肉碱和游离肉碱水平显著低于先前报告中的对照组。然而,游离肉碱与总肉碱的比值没有显著变化。游离肉碱水平与肉碱的营养摄入量密切相关。在调整肉碱的营养摄入量后,发现不仅丙戊酸,其他抗癫痫药物的使用也会导致游离肉碱水平显著下降。在各种人体测量学或生化变量中,白蛋白和尿酸与游离肉碱水平呈显著相关。
医生应意识到,即使在未服用丙戊酸的情况下,严重残疾患者也有肉碱缺乏的风险,并应更加关注肉碱的营养摄入量。