异亮氨酸分解代谢的一种“新”紊乱症。
A "new" disorder of isoleucine catabolism.
作者信息
Daum R S, Lamm P H, Mamer O A, Scriver C R
出版信息
Lancet. 1971 Dec 11;2(7737):1289-90. doi: 10.1016/s0140-6736(71)90605-2.
PMID:4143539
Abstract
A disorder of isoleucine catabolism was found in a child with intermittent metabolic acidosis. The block occurs at the stage of propionate synthesis, and two intermediates--alpha-methylacetoacetate and alpha-methyl-beta-hydroxybutyrate--accumulate. The condition is apparently inherited.
摘要
在一名患有间歇性代谢性酸中毒的儿童中发现了异亮氨酸分解代谢紊乱。阻断发生在丙酸合成阶段，两种中间产物——α-甲基乙酰乙酸和α-甲基-β-羟基丁酸——积累。这种病症显然是遗传性的。
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