SUSPECTED PTERIN-4A-CARBINOLAMINE DEHYDRATASE DEFICIENCY - HYPERPHENYLALANINEMIA DUE TO INHIBITION OF PHENYLALANINE-HYDROXYLASE BY TETRAHYDRO-7-BIOPTERIN

被引：9
作者：
ADLER, C
GHISLA, S
REBRIN, I
HEIZMANN, CW
BLAU, N
CURTIUS, HC
机构：
[1] UNIV ZURICH, DEPT PEDIAT, DIV CLIN CHEM, STEINWIESSTR 75, CH-8032 ZURICH, SWITZERLAND
[2] UNIV CONSTANCE, FAC BIOL, W-7750 CONSTANCE, GERMANY
[3] UNIV GREIFSWALD, DEPT HUMAN GENET, O-2200 GREIFSWALD, GERMANY
来源：
JOURNAL OF INHERITED METABOLIC DISEASE | 1992年 / 15卷 / 03期
关键词：
D O I：
10.1007/BF02435989
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
[No abstract available]
引用
收藏
页码：405 / 408
页数：4
相关论文
共 11 条
[1]  
ADLER C, 1990, HELV CHIM ACTA, V73, P1058
[2]  
ADLER C, 1991, PTERINS BIOGENIC AMI, P69
[3]  
CURTIUS HC, 1990, J BIOL CHEM, V265, P3923
[4]   PRIMAPTERIN, ANAPTERIN, AND 6-OXO-PRIMAPTERIN, 3 NEW 7-SUBSTITUTED PTERINS IDENTIFIED IN A PATIENT WITH HYPERPHENYLALANINEMIA [J].
CURTIUS, HC ;
KUSTER, T ;
MATASOVIC, A ;
BLAU, N ;
DHONDT, JL .
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1988, 153 (02) :715-721
[5]   7-SUBSTITUTED PTERINS - FORMATION DURING PHENYLALANINE HYDROXYLATION IN THE ABSENCE OF DEHYDRATASE [J].
CURTIUS, HC ;
ADLER, C ;
REBRIN, I ;
HEIZMANN, C ;
GHISLA, S .
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1990, 172 (03) :1060-1066
[6]  
CURTIUS HC, 1989, CHEM BIOL PTERIDINES, P274
[7]   CONVERSION OF 6-SUBSTITUTED TETRAHYDROPTERINS TO 7-ISOMERS VIA PHENYLALANINE HYDROXYLASE-GENERATED INTERMEDIATES [J].
DAVIS, MD ;
KAUFMAN, S ;
MILSTIEN, S .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1991, 88 (02) :385-389
[8]   NEONATAL HYPERPHENYLALANINEMIA PRESUMABLY CAUSED BY A NEW VARIANT OF BIOPTERIN SYNTHETASE DEFICIENCY [J].
DHONDT, JL ;
GUIBAUD, P ;
ROLLAND, MO ;
DORCHE, C ;
ANDRE, S ;
FORZY, G ;
HAYTE, JM .
EUROPEAN JOURNAL OF PEDIATRICS, 1988, 147 (02) :153-157
[9]  
NIEDERWIESER A, 1982, BIOCH CLIN ASPECTS P, V1, P81
[10]  
SHIMAN R, 1987, METHOD ENZYMOL, V142, P17
12