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Hyperphenylalaninaemia presumably due to carbinolamine dehydratase deficiency: loading tests with pterin derivatives.

作者信息

Blau N, Kierat L, Curtius H C, Blaskovics M, Giudici T

机构信息

Department of Pediatrics, University of Zurich, Switzerland.

出版信息

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

DOI:10.1007/BF02435990
PMID:1405481
Abstract
摘要

相似文献

1
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.
2
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.
3
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.
4
[Screening of tetrahydrobiopterin deficiency among hyperphenylalaninemic patients].[高苯丙氨酸血症患者中四氢生物蝶呤缺乏症的筛查]
Ann Biol Clin (Paris). 2002 Mar-Apr;60(2):165-71.
5
Pterin metabolism in normal subjects and hyperphenylalaninaemic patients.正常受试者和高苯丙氨酸血症患者的蝶呤代谢
J Inherit Metab Dis. 1981;4(2):47-8. doi: 10.1007/BF02263584.
6
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.
7
Tetrahydrobiopterin and inherited hyperphenylalaninemias.四氢生物蝶呤与遗传性高苯丙氨酸血症
Turk J Pediatr. 1996 Jan-Mar;38(1):19-35.
8
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.
9
International database of tetrahydrobiopterin deficiencies.四氢生物蝶呤缺乏症国际数据库
J Inherit Metab Dis. 1996;19(1):8-14. doi: 10.1007/BF01799342.
10
Differential diagnosis of variant forms of hyperphenylalaninaemia by urinary pterins.通过尿蝶呤对高苯丙氨酸血症变异形式进行鉴别诊断。
J Inherit Metab Dis. 1983;6(3):123-4. doi: 10.1007/BF01800743.

引用本文的文献

1
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.
2
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.

本文引用的文献

1
Analysis of reduced forms of biopterin in biological tissues and fluids.生物组织和体液中生物蝶呤还原形式的分析。
Anal Biochem. 1980 Feb;102(1):176-88. doi: 10.1016/0003-2697(80)90336-x.
2
High-performance liquid chromatography with column switching for the analysis of biogenic amine metabolites and pterins.采用柱切换的高效液相色谱法分析生物胺代谢物和蝶呤。
J Chromatogr. 1984 May 4;290:237-46. doi: 10.1016/s0021-9673(01)93579-4.
3
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.
4
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.
5
New variant of hyperphenylalaninaemia with excretion of 7-substituted pterins.
Eur J Pediatr. 1988 Nov;148(2):176. doi: 10.1007/BF00445941.
6
A new variant of biopterin deficiency.一种新的生物蝶呤缺乏症变体。
N Engl J Med. 1988 Dec 15;319(24):1611-2. doi: 10.1056/NEJM198812153192420.
7
Primapterinuria: a new variant of atypical phenylketonuria.
J Inherit Metab Dis. 1989;12 Suppl 2:335-8. doi: 10.1007/BF03335415.
8
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.
9
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.
10
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.