• 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Journal of Inborn Errors of Metabolism & Screening >Reducing the False-Positive Rate for Isovalerylcarnitine in Expanded Newborn Screening The Application of a Second-Tier Test
【24h】

Reducing the False-Positive Rate for Isovalerylcarnitine in Expanded Newborn Screening The Application of a Second-Tier Test

机译：在扩大新生儿筛查中降低异戊基肉碱的假阳性率第二层检验的应用

获取原文
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

The isodecyl neopentanoate is an ingredient used in the cosmetic industry to prepare a nipple fissure balm. We report on 12 newborns that showed elevated C5-acylcarnitine levels upon newborn screening following treatment with balm. The first 3 neonates were immediately recalled for confirmatory tests and resulted negative for both isovaleric acidemia and short/branched chain acyl-CoA dehydrogenase deficiency. In the other 9 cases, the immediate recall was avoided by applying a new second-tier test able to confirm the presence of pivaloylcarnitine. The concentration of C5-acylcarnitine was measured in the days following the suspension of balm application. Abnormal concentrations of C5-acylcarnitine did not seem to be associated with free carnitine deficiency, probably due to the short time of exposure. A direct correlation between balm ingestion and the elevation in pivaloylcarnitine has been demonstrated in 10 adult volunteers. The commercial balm containing a pivalic acid derivative is causal of false-positive results during newborn screening, and it could have the potential to cause secondary carnitine deficiency when used chronically.
机译：新戊酸异癸酯是化妆品工业中用于制备乳头裂痕香膏的成分。我们报告的12个新生儿在用香脂治疗后进行新生儿筛查后显示C5-酰基肉碱水平升高。立即召回前3名新生儿进行确认性测试，结果异戊酸血症和短/支链酰基辅酶A脱氢酶缺乏症均为阴性。在其他9个案例中，通过应用能够确认新戊酰肉碱是否存在的新的第二级测试避免了立即召回。在停止施用香脂后的几天中测量C5-酰基肉碱的浓度。 C5-酰基肉碱浓度异常似乎与游离肉碱缺乏无关，可能是由于暴露时间短。 10名成年志愿者证实了香脂的摄入与新戊酰肉碱的升高之间有直接的关系。含有新戊酸衍生物的市售香脂是新生儿筛查时假阳性结果的因果，长期使用可能会导致继发性肉碱缺乏。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号