3-羟基-3-甲基戊二酸尿症，合并3-甲基戊烯二酸尿症。
3-Hydroxy-3-methylglutaric aciduria, combined with 3-methylglutaconic aciduria.
作者信息
Wysocki S J, Wilkinson S P, Hähnel R, Wong C Y, Panegyres P K
出版信息
Clin Chim Acta. 1976 Aug 2;70(3):399-406. doi: 10.1016/0009-8981(76)90353-3.
PMID:947633
Abstract
- A baby with severe metabolic acidosis was found to excrete abnormal amounts of 3-methylcrotonic acid, 3-methylglutaconic acid and 3-hydroxy-3-methylglutaric acid in urine. 2. Several other abnormal constitutents appear to be products of side-reactions and include 3-hydroxy-3-methylbutyric acid and 3-methylglutaric acid. 3. The profile of acids in urine indicates a blockage in the sixth step of leucine catabolism, the cleavage of 3-hydroxy-3-methylglutaryl-CoA to acetoacetic acid and acetyl-CoA.
摘要
- 一名患有严重代谢性酸中毒的婴儿被发现尿液中排泄异常量的3-甲基巴豆酸、3-甲基戊烯二酸和3-羟基-3-甲基戊二酸。2. 其他几种异常成分似乎是副反应的产物，包括3-羟基-3-甲基丁酸和3-甲基戊二酸。3. 尿液中的酸谱表明亮氨酸分解代谢第六步存在阻断，即3-羟基-3-甲基戊二酰辅酶A裂解为乙酰乙酸和乙酰辅酶A。
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