Ohtani Y, Ohyanagi K, Yamamoto S, Matsuda I
Department of Child Development, Kumamoto University Medical School, Japan.
J Pediatr. 1988 Mar;112(3):409-14. doi: 10.1016/s0022-3476(88)80321-4.
Carnitine status was evaluated in 12 patients with hyperammonemic attacks caused by a deficiency in ornithine transcarbamylase. We found decreased free carnitine and increased acylcarnitine levels in the serum, a decreased free carnitine content and an elevated acyl/free carnitine ratio in the liver, and increased excretion of free and acylcarnitine in the urine. Analyses of urinary acylcarnitine using the secondary ion mass spectrometry technique revealed increased amounts of acetylcarnitine and dicarboxylic acid derivatives. These data suggest that the patients had a secondary carnitine deficiency, possibly an aggravating factor in urea cycle dysfunction. After oral administration of L-carnitine (50 to 100 mg/kg/d) in two patients, hyperammonemic episodes were less frequent. Blood ammonia levels decreased significantly, accompanied by an increase in serum free carnitine levels.
对12例因鸟氨酸转氨甲酰酶缺乏引起高氨血症发作的患者进行了肉碱状态评估。我们发现，患者血清中游离肉碱水平降低，酰基肉碱水平升高；肝脏中游离肉碱含量降低，酰基/游离肉碱比值升高；尿液中游离和酰基肉碱的排泄增加。使用二次离子质谱技术对尿酰基肉碱进行分析，结果显示乙酰肉碱和二羧酸衍生物的量增加。这些数据表明，这些患者存在继发性肉碱缺乏，这可能是尿素循环功能障碍的一个加重因素。对两名患者口服L-肉碱（50至100mg/kg/天）后，高氨血症发作频率降低。血氨水平显著下降，同时血清游离肉碱水平升高。
