Ohtani Y, Nishiyama S, Matsuda I
Neurology. 1984 Jul;34(7):977-9. doi: 10.1212/wnl.34.7.977.
Free and acylcarnitine in serum and urine samples were measured in miscellaneous diseases, including mitochondrial cytopathy with Fanconi's syndrome (MCFS). The urinary concentration of acylcarnitine always exceeded that of free carnitine, and a significant negative correlation was found between the ratio of serum free to acylcarnitine and the ratio of free to acylcarnitine clearance among control and test patients (p less than 0.005). A patient with MCFS excreted large amounts of free carnitine compared with acylcarnitine in urine, which may be attributable to decreased reabsorption of free carnitine in renal tubules.
在包括伴有范科尼综合征的线粒体细胞病（MCFS）在内的多种疾病中，对血清和尿液样本中的游离肉碱和酰基肉碱进行了测量。尿液中酰基肉碱的浓度总是超过游离肉碱，并且在对照患者和受试患者中，血清游离肉碱与酰基肉碱的比率和游离肉碱与酰基肉碱清除率的比率之间存在显著的负相关（p<0.005）。与尿液中的酰基肉碱相比，一名MCFS患者排泄了大量的游离肉碱，这可能归因于肾小管中游离肉碱重吸收减少。
