Bory C, Boulieu R, Chantin C, Mathieu M
Laboratoire de Biochimie, Hôpital Debrousse, Lyon, France.
Clin Chim Acta. 1990 Jul;189(1):7-11. doi: 10.1016/0009-8981(90)90228-k.
The clinical and biochemical features of five cases of alcaptonuria were reported. The concentration of homogentisic acid was determined in urine and also in plasma using a rapid, sensitive and specific HPLC method. In all five cases, the concentrations of homogentisic acid were elevated in urine rising up to 46.5 mmol/24 h. In plasma, homogentisic acid levels ranged from 33 to 38 mumols/l. In healthy individuals, homogentisic acid was not detectable in plasma and urine. The method described represents a very useful and suitable analytical tool for the diagnosis of alcaptonuria.
报告了5例尿黑酸尿症患者的临床和生化特征。采用快速、灵敏且特异的高效液相色谱法测定了尿液及血浆中尿黑酸的浓度。在所有5例患者中，尿中尿黑酸浓度均升高，最高可达46.5 mmol/24小时。血浆中尿黑酸水平在33至38 μmol/L之间。在健康个体中，血浆和尿液中均未检测到尿黑酸。所描述的方法是诊断尿黑酸尿症非常有用且合适的分析工具。
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