• 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

蝶酰丙氨酸、脱氨蝶酰丙氨酸和6-氧代蝶酰丙氨酸,在一名高苯丙氨酸血症患者中鉴定出的三种新的7-取代蝶呤。

Primapterin, anapterin, and 6-oxo-primapterin, three new 7-substituted pterins identified in a patient with hyperphenylalaninemia.

作者信息

Curtius H C, Kuster T, Matasovic A, Blau N, Dhondt J L

机构信息

Department of Pediatrics, University of Zurich, Switzerland.

出版信息

Biochem Biophys Res Commun. 1988 Jun 16;153(2):715-21. doi: 10.1016/s0006-291x(88)81153-7.

DOI:10.1016/s0006-291x(88)81153-7
PMID:3382399
Abstract

Three unknown compounds present in the urine of a patient with mild hyperphenylalaninemia were identified to be L-erythro-7-iso-biopterin, D-erythro-7-iso-neopterin, and L-erythro-6-oxo-7-iso-biopterin. The newly identified pterins were named primapterin, anapterin, and 6-oxo-primapterin, respectively. Primapterin and anapterin are present in very low concentrations in every human urine, as well as in the liver of man and mouse, whereas 6-oxo-primapterin was detected in the patient's urine only. Substantial amounts of primapterin were excreted in the patient described. The metabolic origin of primapterin and anapterin is still obscure.

摘要

在一名轻度高苯丙氨酸血症患者的尿液中发现的三种未知化合物被鉴定为L-赤藓糖型-7-异生物蝶呤、D-赤藓糖型-7-异新蝶呤和L-赤藓糖型-6-氧代-7-异生物蝶呤。新鉴定出的蝶呤分别被命名为初蝶呤、反蝶呤和6-氧代-初蝶呤。初蝶呤和反蝶呤在每个人的尿液以及人和小鼠的肝脏中含量都非常低,而6-氧代-初蝶呤仅在该患者的尿液中被检测到。在所描述的患者中排出了大量的初蝶呤。初蝶呤和反蝶呤的代谢来源仍不清楚。

相似文献

1
Primapterin, anapterin, and 6-oxo-primapterin, three new 7-substituted pterins identified in a patient with hyperphenylalaninemia.蝶酰丙氨酸、脱氨蝶酰丙氨酸和6-氧代蝶酰丙氨酸,在一名高苯丙氨酸血症患者中鉴定出的三种新的7-取代蝶呤。
Biochem Biophys Res Commun. 1988 Jun 16;153(2):715-21. doi: 10.1016/s0006-291x(88)81153-7.
2
GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine, and serotonin deficiencies and muscular hypotonia.GTP环化水解酶I缺乏症,一种导致高苯丙氨酸血症并伴有新蝶呤、生物蝶呤、多巴胺和5-羟色胺缺乏以及肌张力减退的新型酶缺陷。
Eur J Pediatr. 1984 Feb;141(4):208-14. doi: 10.1007/BF00572762.
3
7-Substituted pterins. A new class of mammalian pteridines.7-取代蝶呤。一类新的哺乳动物蝶啶。
J Biol Chem. 1990 Mar 5;265(7):3923-30.
4
Use of tetrahydropterins in the treatment of hyperphenylalaninemia due to defective synthesis of tetrahydrobiopterin: evidence that peripherally administered tetrahydropterins enter the brain.四氢蝶呤在治疗因四氢生物蝶呤合成缺陷所致高苯丙氨酸血症中的应用:外周给予的四氢蝶呤进入脑内的证据
Pediatrics. 1982 Sep;70(3):376-80.
5
Hyperphenylalaninemia with high levels of 7-biopterin is associated with mutations in the PCBD gene encoding the bifunctional protein pterin-4a-carbinolamine dehydratase and transcriptional coactivator (DCoH).伴有高水平7-生物蝶呤的高苯丙氨酸血症与编码双功能蛋白蝶呤-4a-甲醇胺脱水酶和转录共激活因子(DCoH)的PCBD基因突变有关。
Am J Hum Genet. 1998 Jun;62(6):1302-11. doi: 10.1086/301887.
6
7-substituted pterins: formation and occurrence.7-取代蝶呤:形成与存在
J Nutr Sci Vitaminol (Tokyo). 1992;Spec No:501-4. doi: 10.3177/jnsv.38.special_501.
7
[Evaluation of 6-years' experience of screening for hyperphenylalaninemia caused by cofactor deficiency].[对因辅因子缺乏所致高苯丙氨酸血症6年筛查经验的评估]
Arch Fr Pediatr. 1986 Dec;43(10):785-9.
8
Altered tetrahydrobiopterin metabolism in patients with phenylalanine hydroxylase deficiency.苯丙氨酸羟化酶缺乏症患者四氢生物蝶呤代谢的改变。
Eur J Pediatr. 2017 Jul;176(7):917-924. doi: 10.1007/s00431-017-2932-x. Epub 2017 May 24.
9
Hyperphenylalaninemia.高苯丙氨酸血症
Neurology. 1992 Mar;42(3 Pt 1):704-5. doi: 10.1212/wnl.42.3.704.
10
Atypical phenylketonuria caused by 7, 8-dihydrobiopterin synthetase deficiency.由7,8-二氢生物蝶呤合成酶缺乏引起的非典型苯丙酮尿症。
Lancet. 1979 Jan 20;1(8108):131-3. doi: 10.1016/s0140-6736(79)90521-x.

引用本文的文献

1
Lessons from 30 years of selective screening for tetrahydrobiopterin deficiency.30 年对四氢生物蝶呤缺乏症进行选择性筛查的经验教训。
J Inherit Metab Dis. 2010 Oct;33(Suppl 2):S219-23. doi: 10.1007/s10545-010-9091-9. Epub 2010 May 11.
2
Characterization of the wild-type form of 4a-carbinolamine dehydratase and two naturally occurring mutants associated with hyperphenylalaninemia.4a-氨基甲醇脱水酶野生型形式及与高苯丙氨酸血症相关的两种天然存在突变体的表征。
Proc Natl Acad Sci U S A. 1995 Dec 19;92(26):12384-8. doi: 10.1073/pnas.92.26.12384.
3
Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism.
4a-氨基甲醇胺脱水酶基因突变导致轻度高苯丙氨酸血症伴辅助因子代谢缺陷。
Am J Hum Genet. 1993 Sep;53(3):768-74.
4
New variant of hyperphenylalaninaemia with excretion of 7-substituted pterins.
Eur J Pediatr. 1988 Nov;148(2):176. doi: 10.1007/BF00445941.
5
Primapterinuria: a new variant of atypical phenylketonuria.
J Inherit Metab Dis. 1989;12 Suppl 2:335-8. doi: 10.1007/BF03335415.
6
Prenatal diagnosis of atypical phenylketonuria.非典型苯丙酮尿症的产前诊断
J Inherit Metab Dis. 1989;12 Suppl 2:295-8. doi: 10.1007/BF03335403.
7
Conversion of 6-substituted tetrahydropterins to 7-isomers via phenylalanine hydroxylase-generated intermediates.通过苯丙氨酸羟化酶生成的中间体将6-取代四氢蝶呤转化为7-异构体。
Proc Natl Acad Sci U S A. 1991 Jan 15;88(2):385-9. doi: 10.1073/pnas.88.2.385.
8
Studies on the partially uncoupled oxidation of tetrahydropterins by phenylalanine hydroxylase.苯丙氨酸羟化酶对四氢蝶呤的部分解偶联氧化作用的研究。
Neurochem Res. 1991 Jul;16(7):813-9. doi: 10.1007/BF00965691.
9
Identity of 4a-carbinolamine dehydratase, a component of the phenylalanine hydroxylation system, and DCoH, a transregulator of homeodomain proteins.苯丙氨酸羟化系统的一个组成部分4a-氨基甲醇脱水酶与同源结构域蛋白的反式调节因子DCoH的同一性。
Proc Natl Acad Sci U S A. 1992 Dec 15;89(24):11891-4. doi: 10.1073/pnas.89.24.11891.
10
Immunological detection of phenylalanine hydroxylase protein in Drosophila melanogaster.黑腹果蝇中苯丙氨酸羟化酶蛋白的免疫学检测
Biochem J. 1992 Oct 1;287 ( Pt 1)(Pt 1):85-9. doi: 10.1042/bj2870085.