尿素循环疾病的大规模筛查：一种利用两种偶联酶检测高鸟氨酸血症的新型大规模筛查方法。

Mass screening of urea cycle diseases: a new mass screening method of hyperornithinemia by using two coupling enzymes.

作者信息

Fujimura Y, Matsuzawa T, Kawamura M, Tada K, Mizuno K

出版信息

Tohoku J Exp Med. 1983 Nov;141(3):257-61. doi: 10.1620/tjem.141.257.

DOI:10.1620/tjem.141.257

Abstract

We devised a new microfluorometric mass screening method for determining ornithine in only one blood disc of 3 mm in diameter (blood of 2-3 microliters) by use of two coupling enzymes, ornithine aminotransferase and delta'-pyrroline-5-carboxylate reductase. We could apply this method to some cases of gyrate atrophy of the choroid and retina. Our method can be applied in range of 0 to 12-16 nmoles or about 54.8 mg% or about 4 mM ornithine in blood. Ornithine values by our method were well correlated with those by an amino acid analyser.

摘要

我们设计了一种新的微量荧光质量筛选方法，通过使用鸟氨酸转氨酶和δ'-吡咯啉-5-羧酸还原酶这两种偶联酶，仅在直径3毫米的单个血片中（2 - 3微升血液）测定鸟氨酸。我们可以将此方法应用于一些脉络膜和视网膜回旋状萎缩的病例。我们的方法可检测血液中0至12 - 16纳摩尔或约54.8毫克%或约4毫摩尔的鸟氨酸。我们方法测得的鸟氨酸值与氨基酸分析仪测得的值高度相关。