Detection of Hepatic Phenylalanine 4-Hydroxylase in Classical Phenylketonuria
- 1 February 1973
- journal article
- Published by Proceedings of the National Academy of Sciences in Proceedings of the National Academy of Sciences
- Vol. 70 (2) , 552-556
- https://doi.org/10.1073/pnas.70.2.552
Abstract
An extract from a liver biopsy of a patient with classical phenylketonuria contains phenylalanine 4-hydroxylase (EC 1.14.3.1) with a specific activity 0.27% of the normal activity of the hydroxylase. This enzyme from a patient with phenylketonuria is a structurally altered form of phenylalanine 4-hydroxylase that probably results from a mutation in the gene coding for the hydroxylase.Keywords
This publication has 21 references indexed in Scilit:
- Formation of meta-tyrosine from L-phenylalanine by beef adrenal medulla. A new biosynthetic route to catecholaminesBiochemical and Biophysical Research Communications, 1971
- dl‐[2‐14C]p‐CHLOROPHENYLALANINE AS AN INHIBITOR OF TRYPTOPHAN 5‐HYDROXYLASEJournal of Neurochemistry, 1970
- Phenylalanine hydroxylase of human liver: Assay and some propertiesArchives of Biochemistry and Biophysics, 1969
- Further studies on tryptophan hydroxylase in rat brainstem and beef pinealBiochemical Pharmacology, 1969
- PHENYLALANINE-HYDROXYLASE ACTIVITY IN HYPERPHENYLALANINÆMIAThe Lancet, 1967
- Tryptophan Hydroxylation: Measurement in Pineal Gland, Brainstem, and Carcinoid TumorScience, 1967
- Inhibitors of purified beef adrenal tyrosine hydroxylaseBiochemical Pharmacology, 1965
- Hydroxylation of phenylalanine by purified preparations of adrenal and brain tyrosine hydroxylaseBiochemical and Biophysical Research Communications, 1965
- Phenylalanine Hydroxylation Cofactor in PhenylketonuriaScience, 1958
- Studies on Conversion of Phenylalanine to Tyrosine in Phenylpyruvic Oligophrenia.Experimental Biology and Medicine, 1957