H. Curtius, J. Völlmin, K. Baerlocher
Mar 1, 1972
Citations
1
Influential Citations
67
Citations
Journal
Clinica chimica acta; international journal of clinical chemistry
Abstract
Abstract The application in vivo of stable isotopes, e.g. deuterium, for the study of metabolic pathways is demonstrated on the example of the phenylalanine-tyrosine metabolism. A healthy child, a patient with phenylketonuria and a patient with hyper phenylalaninemia were loaded with 200 mg/kg of deuterated phenylalanine. The concentration and deuterium content of the excreted aromatic acids were examined by gas chromatography and gas chromatography/mass spectrometry. Unlike in the healthy child, no deuterium was incorporated into the metabolites of tyrosine by the patients with phenylketonuria and hyperphenylalaninemia. The m-hydroxylation of phenylalanine leading to m-OH-phenylacetic acid was blocked during the loading test in phenylketonuric as well as in hyperphenylalaninemic patients.