Paulson D J, Hoganson G E, Traxler J, Sufit R, Peters H, Shug A L
Department of Neurology, University of Wisconsin Clinical Sciences Center, Madison.
Biochem Med Metab Biol. 1988 Feb;39(1):40-7. doi: 10.1016/0885-4505(88)90056-4.
The effects of a single oral dose of carnitine on fasting-induced ketosis was investigated in four normal individuals, five patients with muscular dystrophy, and one patient with a generalized cytochrome c oxidase deficiency. Plasma carnitine, free fatty acids, glucose, insulin, and glucagon were also measured. Normal individuals showed an average 0.09 mM increase in blood beta-hydroxybutyrate concentration during a 12- to 18-hr period of fasting and carnitine administration did not affect this response (average: 0.12 mM). Muscular dystrophy patients showed a greater fasting-induced elevation in beta-hydroxybutyrate (average 0.29 mM) and carnitine administration greatly enhanced this ketogenic response (average 0.84 mM). The cytochrome c oxidase deficient patient showed an even larger increase in beta-hydroxybutyrate with fasting (1.67 mM) and carnitine further augmented this ketotic effect (3.78 mM). Plasma free fatty acids were also elevated in patients that showed enhanced ketosis. Plasma glucagon concentration did not change, but insulin levels decreased during the 12- to 18-hr period of fasting; no major differences were found between controls and patients. These results indicate that some patients with muscular dystrophy and cytochrome c oxidase deficiency are more prone to develop ketosis than normal individuals and that carnitine administration enhances this response. Since both muscular dystrophy patients and the patient with cytochrome c oxidase deficiency had similar ketogenic responses, the data suggest that ketone body utilization may be impaired in these patients. The ability of L-carnitine to be ketogenic should be considered in the treatment of these patients.
在4名正常个体、5名肌肉萎缩症患者和1名全身性细胞色素c氧化酶缺乏症患者中，研究了单次口服肉碱对禁食诱导的酮症的影响。还测量了血浆肉碱、游离脂肪酸、葡萄糖、胰岛素和胰高血糖素。正常个体在禁食12至18小时期间，血液β-羟基丁酸浓度平均增加0.09 mM，给予肉碱并未影响这一反应（平均为0.12 mM）。肌肉萎缩症患者禁食诱导的β-羟基丁酸升高幅度更大（平均0.29 mM），给予肉碱极大地增强了这种生酮反应（平均0.84 mM）。细胞色素c氧化酶缺乏症患者禁食时β-羟基丁酸增加幅度更大（1.67 mM），肉碱进一步增强了这种酮症效应（3.78 mM）。酮症增强的患者血浆游离脂肪酸也升高。血浆胰高血糖素浓度未改变，但在禁食12至18小时期间胰岛素水平下降；对照组和患者之间未发现重大差异。这些结果表明，一些肌肉萎缩症患者和细胞色素c氧化酶缺乏症患者比正常个体更容易发生酮症，给予肉碱会增强这种反应。由于肌肉萎缩症患者和细胞色素c氧化酶缺乏症患者有相似的生酮反应，数据表明这些患者的酮体利用可能受损。在治疗这些患者时应考虑L-肉碱的生酮能力。
