Brady R O
Ann Clin Lab Sci. 1977 Mar-Apr;7(2):105-12.
There are now ten known heritable disorders of lipid metabolism for which the nature of the underlying enzymological defect is conclusively established. In addition to devising procedures for successful enzyme replacement therapy, much current work deals with the development of convenient, effective methods for the rapid diagnosis of patients with these disorders, the detection of heterozygous carriers of these diseases, and the monitoring of pregnancies at risk for these conditions. Clinical enzymologists are required to assume increasing responsibilities in the performance of these tests, and the present contribution describes the application of fundamental principles and discusses recent developments along this line. In particular, the development of facile chromogenic reagents for the diagnosis of patients with Niemann-Pick disease and Krabbe's disease is delineated. Previously, the diagnosis of such patients required the use of radioactivity labeled compounds and such testing was limited to relatively few research laboratories. The novelty of these reagents and their application comprise the major aspect of this presentation.
目前已知有十种可遗传的脂质代谢紊乱疾病，其潜在酶学缺陷的本质已得到明确证实。除了设计成功的酶替代疗法程序外，当前许多工作还涉及开发便捷、有效的方法，用于快速诊断患有这些疾病的患者、检测这些疾病的杂合子携带者以及监测有这些疾病风险的妊娠情况。临床酶学家在进行这些检测时需要承担越来越多的责任，本论文阐述了基本原理的应用，并讨论了这方面的最新进展。特别介绍了用于诊断尼曼-匹克病和克拉伯病患者的简便显色试剂的开发。以前，此类患者的诊断需要使用放射性标记化合物，且此类检测仅限于相对较少的研究实验室。这些试剂的新颖性及其应用构成了本报告的主要内容。
