• 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>International Journal of Neonatal Screening >Newborn Screening for Glutaric Aciduria Type I: Benefits and limitations
【24h】

Newborn Screening for Glutaric Aciduria Type I: Benefits and limitations

机译：新生儿筛查戊型酸尿症的益处和局限性

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

摘要

More than 15 years ago glutaric aciduria type I has been included in newborn screening programmes and pilot studies evaluating the potential benefit of early diagnosis and start of metabolic treatment for patients with this disease have been initiated. At that time many important questions on epidemiology, diagnostic quality, natural history, treatment, and cost effectiveness were not sufficiently answered. In particular, it was rather unknown whether early treatment improves the outcome. After implementation of glutaric aciduria type I in an increasing number of countries, and with careful evaluation of disease course and impact of early treatment, there is now solid evidence that affected individuals do have substantial benefit and that newborn screening for this disease is a cost-effective diagnostic intervention. Despite this success, there are still limitations concerning diagnostic sensitivity for patients with a low excreting phenotype and knowledge on long-term disease outcome. In conclusion, it has become evident that tandem mass spectrometry-based newborn screening for glutaric aciduria type I is a powerful and cost-effective tool to prevent the manifestation of prognostically-relevant movement disorders in the majority of early diagnosed patients.
机译：15年前，I型戊二酸尿症已被纳入新生儿筛查计划，并且已经开始进行评估该病患者早期诊断和开始代谢治疗的潜在益处的先导研究。当时，关于流行病学，诊断质量，自然病史，治疗和成本效益的许多重要问题尚未得到充分回答。特别是，早期治疗是否能改善预后尚不明确。在越来越多的国家/地区实施I型戊二酸尿症并仔细评估了疾病的病程和早期治疗的影响后，现在有确凿的证据表明，受影响的个体确实受益匪浅，新生儿筛查这种疾病的费用很高-有效的诊断干预。尽管取得了这一成功，但对于排泄表型低和对长期疾病结局的了解的患者，其诊断敏感性仍然存在局限性。总之，基于串联质谱的新生儿筛查I型戊二酸尿症是一种功能强大且经济高效的工具，可防止大多数早期诊断的患者出现与预后相关的运动障碍。

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