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首页> 外文期刊>International Journal of Neonatal Screening >Mini-Review: Challenges in Newborn Screening for Urea Cycle Disorders
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Mini-Review: Challenges in Newborn Screening for Urea Cycle Disorders

机译：小型复习：新生儿筛查尿素循环障碍的挑战

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Urea cycle disorders (UCDs) comprise a group of recessive and one X-linked inherited errors of protein metabolism that, due to insufficient detoxification of excess nitrogen, can lead to severe neurological disease. The key feature, but at the same time only a surrogate marker of UCDs, is the resulting mild to severe hyperammonemia. Biochemical analysis is needed to strengthen the suspicion of any underlying UCD but remains for the majority of cases rather indicative than diagnostic due to the lack of definite markers. Thus, in order to confirm a specific UCD, mutation analysis or enzyme assays are the methods of choice. Because of the drastic clinical complications of severe hyperammonemia, an early diagnosis before onset of symptoms would be desirable. The best way to achieve this would be to implement a general newborn screening for these disorders. However, there are several challenges that need to be overcome before newborn screening for UCDs can be introduced. This review will briefly describe the technical and clinical challenges involved in newborn screening for UCDs and will then discuss current experiences with this approach.
机译：尿素循环系统疾病（UCD）包括一组隐性遗传和一个X连锁遗传性蛋白质代谢错误，由于过量氮的解毒不足，可导致严重的神经系统疾病。关键特征（但同时仅是UCD的替代标记）是所导致的轻度至重度高氨血症。需要进行生化分析以加强对任何潜在的UCD的怀疑，但由于缺乏明确的标记物，大多数情况下仍需进行生化分析，而不是进行诊断。因此，为了确认特定的UCD，选择突变分析或酶测定法。由于严重的高氨血症的严重临床并发症，在症状发作之前及早诊断是可取的。实现这一目标的最佳方法是对这些疾病进行常规的新生儿筛查。但是，在引入新生儿UCD筛查之前，有一些挑战需要克服。这篇综述将简要描述新生儿UCD筛查所涉及的技术和临床挑战，然后将讨论这种方法的最新经验。

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