SENSITIVE INVIVO 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

被引：34

作者：

TREFZ, FK ^{[1
]}

ERLENMAIER, T ^{[1
]}

HUNNEMAN, DH ^{[1
]}

BARTHOLOME, K ^{[1
]}

LUTZ, P ^{[1
]}

机构：

[1] UNIV GOTTINGEN,DEPT PHYSIOL,D-3400 GOTTINGEN,FED REP GER

来源：

CLINICA CHIMICA ACTA | 1979年 / 99卷 / 03期

关键词：

D O I：

10.1016/0009-8981(79)90264-X

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

A method is described which allows the in vivo determination of the phenylalanine hydroxylating system in atypical and classical phenylketonuria. Phenylalanine-d7 is administered i.v. (0.030 g/kg body weight) within 10 min. Tyrosine-d6 in 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. © 1979.

引用

页码：211 / 220

页数：10

共 20 条

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