Talbot H W, Sumlin A B, Naylor E W, Guthrie R
Pediatrics. 1982 Oct;70(4):526-31.
A simple enzyme-multiple auxotroph assay has been developed for the identification of newborn infants with several of the inherited metabolic defects in the Krebs cycle for the detoxification of ammonia and in the ornithine metabolic pathway. This mass screening test is used with dried filter paper blood specimens and can easily be added to existing multiple testing programs presently used in screening for phenylketonuria or congenital hypothyroidism. This assay can be used to detect patients with citrullinemia, argininosuccinic acid lyase deficiency, and argininemia. In addition to these urea cycle disorders, the several types of ornithinemia, which can result in gyrate atrophy of the retina or mental retardation, should be detectable with this assay. The strengths and weaknesses of this assay are discussed and a large-scale pilot screening trial is proposed.
已开发出一种简单的酶-多重营养缺陷型检测方法，用于识别患有几种克雷布斯循环中氨解毒以及鸟氨酸代谢途径中遗传性代谢缺陷的新生儿。这种大规模筛查试验使用干燥滤纸血样，可轻松添加到目前用于筛查苯丙酮尿症或先天性甲状腺功能减退症的现有多项检测项目中。该检测方法可用于检测瓜氨酸血症、精氨琥珀酸裂解酶缺乏症和精氨酸血症患者。除了这些尿素循环障碍外，几种类型的鸟氨酸血症可导致视网膜回旋状萎缩或智力迟钝，也可用该检测方法检测出来。本文讨论了该检测方法的优缺点，并提出了一项大规模的试点筛查试验。
