INHERITED 3-METHYLGLUTACONIC ACIDURIA IN 2 BROTHERS - ANOTHER DEFECT OF LEUCINE METABOLISM
INHERITED 3-METHYLGLUTACONIC ACIDURIA IN 2 BROTHERS - ANOTHER DEFECT OF LEUCINE METABOLISM
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DOI：
10.1016/s0022-3476(82)80698-7
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发表时间：
1982-01-01
影响因子：
5.1
通讯作者：
WADMAN, SK
中科院分区：
文献类型：
--
作者：
DURAN, M;BEEMER, FA;WADMAN, SK
两个兄弟，7岁和5岁，谁排泄大量的亮氨酸代谢产物3-甲基戊烯二酸，3-甲基谷氨酸和3-羟基异戊酸，被描述。这些代谢产物的排泄可以通过增加Leu的摄入来增强。限制蛋白质摄入导致代谢物排泄显著减少。最终Leu代谢产物3-羟基-3-甲基谷氨酸的排泄量保持在较低水平。唯一的临床异常是言语迟缓。3-甲基戊烯二酸辅酶A水合酶（部分）缺乏被认为是最有可能的潜在缺陷。
Two brothers, aged 7 and 5yr, who excreted large amounts of the Leu metabolites 3-methylglutaconic acid, 3-methylglutaric acid and 3-hydroxyisovaleric acid, are described. The excretion of these metabolites could be enhanced by increasing the Leu intake. Restriction of the protein intake resulted in a marked reduction of the metabolite excretion. The excretion of the ultimate Leu metabolite, 3-hydroxy-3-methylglutaric acid, remained unchanged at a low level. The only clinical abnormality was speech retardation. A (partial) deficiency of 3-methylglutaconyl CoA hydratase is proposed to be the most likely underlying defect.