Truscott R J, Hick L, Pullin C, Halpern B, Wilcken B, Griffiths H, Silink M, Kilham H, Grunseit F
Clin Chim Acta. 1979 May 16;94(1):31-9. doi: 10.1016/0009-8981(79)90183-9.
The urine of a child who presented with an episode of a disease resembling Reye's syndrome was found to contain large quantities of the dicarboxylic acids adipic and suberic acids, as well as the glycine conjugate of suberic acid, suberyl glycine. A variety of other dicarboxylic acids, both saturated and unsaturated, were also found in the urine at the time of the attack. It was found that the excretion of these unusual metabolites could be markedly increased by fasting for periods of greater than 10 h. These results indicate that the patient may have a defect in fatty acid oxidation which becomes clinically significant during periods of prolonged fasting.
一名曾出现类似瑞氏综合征疾病发作的儿童尿液中,被发现含有大量己二酸和辛二酸这两种二羧酸,以及辛二酸的甘氨酸共轭物——辛二酰甘氨酸。在发病时,尿液中还发现了多种其他饱和与不饱和二羧酸。研究发现,禁食超过10小时可使这些异常代谢产物的排泄显著增加。这些结果表明,该患者可能存在脂肪酸氧化缺陷,在长期禁食期间这种缺陷会在临床上表现出显著影响。