The diagnostic challenge of mild citrulline elevation at newborn screening
The diagnostic challenge of mild citrulline elevation at newborn screening
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DOI：
10.1016/j.ymgme.2022.02.008
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发表时间：
2022-03-18
影响因子：
3.8
通讯作者：
Dionisi-Vici, Carlo
中科院分区：
文献类型：
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作者：
Siri, Barbara;Olivieri, Giorgia;Dionisi-Vici, Carlo
瓜氨酸是在新生儿扩大筛查（NBS）中测量的目标分析物，其升高代表远端尿素循环障碍和瓜氨酸缺乏症的生物标志物。瓜氨酸与其他尿素循环相关氨基酸的比例改变有助于鉴别诊断。然而，在筛查计划中使用临界值引起了关于在NBS检测到的瓜氨酸水平轻度升高的解释问题，低于在“经典/严重”形式的远端尿素循环障碍和瓜氨酸缺乏症中观察到的通常范围。在此，我们报告了10名瓜氨酸轻度升高的NBS阳性受试者（
Citrulline is a target analyte measured at expanded newborn screening (NBS) and its elevation represents a biomarker for distal urea cycle disorders and citrin deficiency. Altered ratios of citrulline with other urea cycle-related amino acids are helpful for the differential diagnosis. However, the use of cut-off values in screening programmes has raised the issue about the interpretation of mild elevation of citrulline levels detected at NBS, below the usual range observed in the "classical/severe" forms of distal urea cycle disorders and in citrin deficiency. Herein, we report ten subjects with positive NBS for a mild elevation of citrulline (