在培养细胞中，比较底物4-甲基伞形酮基-α-L-艾杜糖醛酸与苯基-α-L-艾杜糖醛酸用于诊断黏多糖贮积症I型。
Comparison of the substrate 4-methylumbelliferyl-alpha-l-iduronide with phenyl-alpha-L-iduronide for the diagnosis of Hurler's disease in cultured cells.
作者信息
Butterworth J, Broadhead D M
出版信息
J Inherit Metab Dis. 1980;2(3):71-4. doi: 10.1007/BF01801722.
4-Methylumbelliferyl-alpha-l-iduronide provided a more sensitive method than phenyl-alpha-l-iduronide for the estimation of alpha-l-iduronidase in cultured cells and could be used to diagnose Hurler's disease. The 4-methylumbelliferyl derivative was no more useful than the phenyl derivative for the detection of heterozygotes. All ten lysosomal enzymes tested could be used as reference enzymes when cell extracts were prepared by freeze/thawing in formate buffer pH 3.5 containing 150 mmol/l sodium chloride.
4-甲基伞形酮基-α-L-艾杜糖苷酸比苯基-α-L-艾杜糖苷酸提供了一种更灵敏的方法来测定培养细胞中的α-L-艾杜糖苷酶，并且可用于诊断Hurler病。4-甲基伞形酮基衍生物在检测杂合子时并不比苯基衍生物更有用。当在含有150 mmol/L氯化钠的pH 3.5甲酸盐缓冲液中通过冻融制备细胞提取物时，所测试的所有十种溶酶体酶都可用作参考酶。
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