3-Methylglutaconyl-CoA hydratase, 3-methylcrotonyl-CoA carboxylase and 3-hydroxy-3-methylglutaryl-CoA lyase deficiencies: a coupled enzyme assay useful for their detection.
3-Methylglutaconyl-CoA hydratase, 3-methylcrotonyl-CoA carboxylase and 3-hydroxy-3-methylglutaryl-CoA lyase deficiencies: a coupled enzyme assay useful for their detection.
复制标题
3-甲基戊二酰辅酶A水合酶、3-甲基巴豆酰辅酶A羧化酶和3-羟基-3-甲基戊二酰辅酶A裂解酶缺陷：可用于检测的偶联酶测定。
DOI：
10.1016/0009-8981(89)90256-8
复制
发表时间：
1989
期刊：
影响因子：
--
通讯作者：
Nyhan,WL
中科院分区：
文献类型：
--
作者：
Narisawa,K;Gibson,KM;Sweetman,L;Nyhan,WL
使用 3-甲基巴豆酰基-CoA 和 NaH14CO3 开发了一种偶联测定法，可以检测 3-甲基巴豆酰基-CoA 羧化酶、3-甲基戊二酰基-CoA 水合酶和 3-羟基-3-甲基戊二酰基 CoA 裂解酶的缺陷。通过高效液相色谱分析反应产物。使用这种方法，记录了 1 名 3-甲基巴豆酰基-CoA 羧化酶缺陷患者、2 名 3-甲基-戊二酰基-CoA 水合酶缺陷患者和 2 名 3-羟基-3-甲基-戊二酰基-CoA 裂解酶缺陷患者的缺陷部位。
A coupled assay has been developed using 3-methylcrotonyl-CoA and NaH14CO3which permits the detection of deficiencies of 3-methylcrotonyl-CoA carboxylase, 3-methylglutaconyl-CoA hydratase and 3-hydroxy-3-methylglutaryl CoA-lyase. The products of the reaction were analyzed by high performance liquid chromatography. Using this method the site of the defect was documented in a patient with deficiency of 3-methylcrotonyl-CoA carboxylase, 2 patients with deficiency of 3-methyl-glutaconyl-CoA hydratase, and 2 patients with deficiency of 3-hydroxy-3-methyl-glutaryl-CoA lyase.