Cerebrotendinous xanthomatosis: reduced serum 26-hydroxycholesterol.
Cerebrotendinous xanthomatosis: reduced serum 26-hydroxycholesterol.
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DOI：
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发表时间：
1982-05
影响因子：
6.5
通讯作者：
N. Javitt;E. Kok;B. Cohen;S. Burstein
中科院分区：
文献类型：
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作者：
N. Javitt;E. Kok;B. Cohen;S. Burstein
通过同位素稀释质谱法对正常个体和脑腱黄瘤病患者的血清 26-羟基胆固醇进行定量。正常人血清中26-羟基胆固醇的浓度为4.3～13.0微克/100毫升。在 5 名 CTX 患者中，血清中 26-羟基胆固醇的范围为 0 至 0.6 微克/100 毫升。这一发现可以通过线粒体 C27 类固醇 26-羟化酶活性降低或缺失来解释。该方法可用于检测 CTX 以及可能的其他甾醇和酸代谢紊乱。
Serum 26-hydroxycholesterol was quantitated by isotope dilution-mass spectrometry in normal individuals and in patients with cerebrotendinous xanthomatosis. In the normal individuals, the concentration of 26-hydroxycholesterol in serum ranged from 4.3 to 13.0 microgram/100 ml. In five patients with CTX, 26-hydroxycholesterol in serum ranged from 0 to 0.6 microgram/100 ml. The findings can be explained by reduced or absent mitochondrial C27 steroid 26-hydroxylase activity. The method is useful for detection of CTX and perhaps other disturbances of sterol and bite acid metabolism.