Sensitive in vivo assay of the phenylalanine hydroxylating system with a small intravenous dose of heptadeutero L-phenylalanine using high pressure liquid chromatography and capillary gas chromatography/mass fragmentography.
Sensitive in vivo assay of the phenylalanine hydroxylating system with a small intravenous dose of heptadeutero L-phenylalanine using high pressure liquid chromatography and capillary gas chromatography/mass fragmentography.
复制标题
使用高压液相色谱和毛细管气相色谱/质量碎片分析法，使用小静脉注射剂量的七氘代 L-苯丙氨酸对苯丙氨酸羟基化系统进行灵敏的体内测定。
DOI：
10.1016/0009-8981(79)90264-x
复制
发表时间：
1979
期刊：
影响因子：
--
通讯作者：
P. Lutz
中科院分区：
文献类型：
--
作者：
F. Trefz;T. Erlenmaier;D. Hunneman;K. Bartholomé;P. Lutz
描述了一种方法，它允许体内测定非典型和典型苯丙酮尿症的苯丙氨酸羟化体系。静脉注射苯丙氨酸-D7。(0.030克/千克体重)在10分钟内。用计算机毛细管气相色谱/质谱仪测定负荷后30~240分钟血浆中酪氨酸-d6的浓度。在2例高苯丙氨酸血症患者中，苯丙氨酸羟化系统的残余活性分别为正常的15.7%和3.7%，在1.5%和0.3%的苯丙酮尿酸中分别为正常的15.7%和3.7%。活体数据与肝活检材料中苯丙氨酸羟基酶的体外活性测定结果吻合较好。
A method is described which allows the in vivo determination of the phenylalanine hydroxylating system in atypical and classical phenylketonuria. Phenylalanine-d7is administered i.v. (0.030 g/kg body weight) within 10 min. Tyrosine-d6in plasma is measured from 30 to 240 min post load by using a computerized capillary gas chromatography/mass fragmentography system. In two patients with hyperphenylalaninemia, the residual activity of the phenylalanine hydroxylating system was 15.7 and 3.7% of the normal, in two phenylketonurics 1.5 and 0.3% respectively. The in vivo figures correspond well to the in vitro assay of the residual activity of the phenylalanine hydroxylase in needle liver biopsy material.