• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

PMID:29320098
Abstract

Currently in Norway, we screen our newborn for two inherited metabolic disorders: Congenital hypothyroidism (CH) and Phenylketonuria (PKU). There is now a proposal to expand the newborn screening program with an additional 19 inherited metabolic disorders: Maple syrup urine disease, MSUD . Tyrosinemia type 1 and 2, TH1 and 2 . Homocystinuria, HCU . Propionic acidaemia, PA . Methylmalonyl- CoA mutase deficiency, MMA . Multiple carboxylase deficiency, MCD/ BIOT . Glutaryl-CoA dehydrogenase deficiency, GA1 . Hydroxymethylglutaryl-CoA lyase deficiency, HMG/ 3MGA . 3-Methylcrotonyl-CoA carboxylase deficiency, 3-MCC . 3-Ketothiolase deficiency, BKT . Isovaleric acidaemia, IVA . Medium-chain acyl-CoA dehydrogenase deficiency, MCAD . Very long-chain acyl-CoA dehydrogenase deficiency, VLCAD . Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, LCHAD . Multiple acyl-CoA dehydrogenase deficiency, GA2 . Carnitine transporter defect, CTD . Carnitine palmitoyl transferase deficiency 1 and 2, CPT1 and 2 . Carnitine acylcarnitine translocase deficiency, CACT . Congenial adrenal hyperplasia, CAH . These are rare diseases in Norway. The proposed disorders can cause serious morbidity including mortality if left untreated. The majority of these diseases can be treated by customized diets. For 17 of the inherited metabolic disorders, we did not find summarized documentation describing the effect of newborn screening. We found systematic reviews regarding newborn screening for four of the inherited metabolic diseases; PKU, tyrosenemia, MCAD and CAH. Mortality was reported only for MCAD and CAH. The overall quality of the evidence is very low. We do not know what effect to expect from newborn screening for inherited metabolic disorders.

摘要

相似文献

1
2
Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening.亚洲国家有机酸血症、脂肪酸氧化障碍和氨基酸障碍的发病率及谱系多样性:选择性筛查与扩大新生儿筛查
Mol Genet Metab Rep. 2018 May 21;16:5-10. doi: 10.1016/j.ymgmr.2018.05.003. eCollection 2018 Sep.
3
Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan.台湾地区串联质谱分析法进行扩展型新生儿筛查的全国性调查。
J Inherit Metab Dis. 2010 Oct;33(Suppl 2):S295-305. doi: 10.1007/s10545-010-9129-z. Epub 2010 Jun 22.
4
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.捷克共和国新生儿筛查发现的罕见病流行病学。
Cent Eur J Public Health. 2019 Jun;27(2):153-159. doi: 10.21101/cejph.a5441.
5
Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.马德里地区扩大新生儿筛查中先天性代谢缺陷的诊断
JIMD Rep. 2022 Jan 27;63(2):146-161. doi: 10.1002/jmd2.12265. eCollection 2022 Mar.
6
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.中国采用串联质谱法对临床患者进行先天性代谢缺陷的选择性筛查:四年报告
J Inherit Metab Dis. 2007 Aug;30(4):507-14. doi: 10.1007/s10545-007-0543-9. Epub 2007 Mar 8.
7
Bloodspot acylcarnitine and amino acid analysis in cord blood samples: efficacy and reference data from a large cohort study.脐血样本中的血斑酰基肉碱和氨基酸分析:一项大型队列研究的有效性及参考数据
J Inherit Metab Dis. 2009 Feb;32(1):95-101. doi: 10.1007/s10545-008-1047-y. Epub 2009 Jan 13.
8
[The advisory report 'Neonatal screening' from the Health Council of The Netherlands].[荷兰卫生委员会的咨询报告《新生儿筛查》]
Ned Tijdschr Geneeskd. 2005 Dec 17;149(51):2857-60.
9
Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin.威斯康星州新生儿筛查中发现的短链/支链酰基辅酶 A 脱氢酶缺乏症 (SBCADD) 的流行率和突变分析。
Mol Genet Metab. 2013 Sep-Oct;110(1-2):111-5. doi: 10.1016/j.ymgme.2013.03.021. Epub 2013 Apr 15.
10
The Cost-Effectiveness of Expanding the Nhs Newborn Bloodspot Screening Programme To Include Homocystinuria (Hcu), Maple Syrup Urine Disease (Msud), Glutaric Aciduria Type 1 (Ga1), Isovaleric Acidaemia (Iva), and Long-Chain Hydroxyacyl-Coa Dehydrogenase Deficiency (Lchadd).将国民保健服务(NHS)新生儿血斑筛查计划扩大到包括同型胱氨酸尿症(HCU)、枫糖尿症(MSUD)、1型戊二酸血症(GA1)、异戊酸血症(IVA)和长链羟酰辅酶A脱氢酶缺乏症(LCHADD)的成本效益分析
Value Health. 2014 Nov;17(7):A531. doi: 10.1016/j.jval.2014.08.1685. Epub 2014 Oct 26.