Kidouchi K, Niwa T, Nohara D, Asai K, Sugiyama N, Morishita H, Kobayashi M, Wada Y
Department of Pediatrics, Nagoya City Higashi General Hospital, Japan.
Clin Chim Acta. 1988 Apr 29;173(3):263-72. doi: 10.1016/0009-8981(88)90013-7.
A quantitative analysis for urinary acylcarnitines in a patient with neonatal multiple acyl-CoA dehydrogenation deficiency is described. This method (liquid chromatography) can quantify twelve acylcarnitines including glutarylcarnitine and 3 isomeric acylcarnitines (butyryl-1, valeryl- and octanoylisomer) in urine. Before and up to the 15th hour of DL-carnitine therapy, isovalerylcarnitine was the largest single component existing in urinary acylcarnitines. Its excretion increased approximately 10 times within 1 day of DL-carnitine therapy. However, the acetyl-, the isobutyryl- and the butyrylcarnitine values increased gradually. From the 8th day of the therapy, the isobutyrylcarnitine value exceeded the isovalerylcarnitine. The patient's dominant urinary specific acylcarnitine derived from amino acids oxidation deficiency was changed from isovalerylcarnitine(leucine) to isobutyrylcarnitine(valine) during the early period of DL-carnitine therapy. Glutarylcarnitine was a minor component in the urine. Its degree of increase was as small as that of octanoylcarnitine. 2-Methylbutyrylcarnitine and propionylcarnitine were not detected.
本文描述了对一名患有新生儿多种酰基辅酶A脱氢酶缺乏症患者尿液中酰基肉碱的定量分析。该方法（液相色谱法）可对尿液中的12种酰基肉碱进行定量，包括戊二酰肉碱和3种异构酰基肉碱（丁酰-1、戊酰和辛酰异构体）。在DL-肉碱治疗前及治疗至第15小时期间，异戊酰肉碱是尿液酰基肉碱中含量最高的单一成分。在DL-肉碱治疗1天内，其排泄量增加了约10倍。然而，乙酰肉碱、异丁酰肉碱和丁酰肉碱的值逐渐升高。从治疗第8天起，异丁酰肉碱的值超过了异戊酰肉碱。在DL-肉碱治疗早期，该患者因氨基酸氧化缺乏导致的主要尿液特异性酰基肉碱从异戊酰肉碱（亮氨酸）转变为异丁酰肉碱（缬氨酸）。戊二酰肉碱是尿液中的次要成分。其增加程度与辛酰肉碱一样小。未检测到2-甲基丁酰肉碱和丙酰肉碱。
