疑似蝶呤-4a-甲醇胺脱水酶缺乏症：四氢生物蝶呤抑制苯丙氨酸羟化酶导致高苯丙氨酸血症。 - Suppr

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超能文献

Suspected pterin-4a-carbinolamine dehydratase deficiency: hyperphenylalaninaemia due to inhibition of phenylalanine hydroxylase by tetrahydro-7-biopterin.

作者信息

Adler C, Ghisla S, Rebrin I, Heizmann C W, Blau N, Curtius H C

机构信息

Department of Pediatrics, University of Zurich, Switzerland.

出版信息

J Inherit Metab Dis. 1992;15(3):405-8. doi: 10.1007/BF02435989.

DOI:10.1007/BF02435989

PMID:1405480

Abstract

摘要

相似文献

Suspected pterin-4a-carbinolamine dehydratase deficiency: hyperphenylalaninaemia due to inhibition of phenylalanine hydroxylase by tetrahydro-7-biopterin.疑似蝶呤-4a-甲醇胺脱水酶缺乏症：四氢生物蝶呤抑制苯丙氨酸羟化酶导致高苯丙氨酸血症。

J Inherit Metab Dis. 1992;15(3):405-8. doi: 10.1007/BF02435989.

Hyperphenylalaninaemia presumably due to carbinolamine dehydratase deficiency: loading tests with pterin derivatives.可能因甲醇胺脱水酶缺乏导致的高苯丙氨酸血症：蝶呤衍生物负荷试验

J Inherit Metab Dis. 1992;15(3):409-12. doi: 10.1007/BF02435990.

7-substituted pterins in humans with suspected pterin-4a-carbinolamine dehydratase deficiency. Mechanism of formation via non-enzymatic transformation from 6-substituted pterins.疑似蝶呤-4a-甲醇胺脱水酶缺乏症患者体内的7-取代蝶呤。通过6-取代蝶呤的非酶促转化形成的机制。

Eur J Biochem. 1992 Aug 15;208(1):139-44. doi: 10.1111/j.1432-1033.1992.tb17167.x.

Specific interaction of the diastereomers 7(R)- and 7(S)-tetrahydrobiopterin with phenylalanine hydroxylase: implications for understanding primapterinuria and vitiligo.非对映异构体7(R)-和7(S)-四氢生物蝶呤与苯丙氨酸羟化酶的特异性相互作用：对理解原发性蝶呤尿症和白癜风的意义。

FASEB J. 2006 Oct;20(12):2130-2. doi: 10.1096/fj.06-5835fje. Epub 2006 Aug 25.

Catalytic characterization of 4a-hydroxytetrahydropterin dehydratase.4a-羟基四氢蝶呤脱水酶的催化特性

Biochemistry. 1995 May 2;34(17):5801-10. doi: 10.1021/bi00017a011.

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.

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.

Human pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor-1 alpha. Characterization and kinetic analysis of wild-type and mutant enzymes.人蝶呤-4α-羧胺脱水酶/肝细胞核因子-1α二聚化辅因子。野生型和突变型酶的特性及动力学分析。

Eur J Biochem. 1995 Jul 15;231(2):414-23. doi: 10.1111/j.1432-1033.1995.tb20714.x.

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.

Evidence for the formation of the 4a-carbinolamine during the tyrosine-dependent oxidation of tetrahydrobiopterin by rat liver phenylalanine hydroxylase.大鼠肝脏苯丙氨酸羟化酶在四氢生物蝶呤酪氨酸依赖性氧化过程中4a-氨基甲醇形成的证据。

J Biol Chem. 1989 May 25;264(15):8585-96.

引用本文的文献

Am J Hum Genet. 1993 Sep;53(3):768-74.

本文引用的文献

Purification and assay of rat liver phenylalanine 4-monooxygenase.大鼠肝脏苯丙氨酸4-单加氧酶的纯化与测定

Methods Enzymol. 1987;142:17-27. doi: 10.1016/s0076-6879(87)42004-1.

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.

Neonatal hyperphenylalaninaemia presumably caused by a new variant of biopterin synthetase deficiency.新生儿高苯丙氨酸血症可能由一种新的生物蝶呤合成酶缺乏变体引起。

Eur J Pediatr. 1988 Feb;147(2):153-7. doi: 10.1007/BF00442213.

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.

7-Substituted pterins: formation during phenylalanine hydroxylation in the absence of dehydratase.7-取代蝶呤：在缺乏脱水酶的情况下苯丙氨酸羟化过程中的形成。

Biochem Biophys Res Commun. 1990 Nov 15;172(3):1060-6. doi: 10.1016/0006-291x(90)91554-6.

Proc Natl Acad Sci U S A. 1991 Jan 15;88(2):385-9. doi: 10.1073/pnas.88.2.385.

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