title: Detection of hepatic phenylalanine 4-hydroxylase in classical phenylketonuria.
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.
mesh_terms: D002247:Carbon Isotopes; D004790:Enzyme Induction / Q000187:drug effects; D006801:Humans; D007700:Kinetics; D008099:Liver / Q000201:enzymology*; D008244:Lysophosphatidylcholines / Q000494:pharmacology; D010649:Phenylalanine / Q000378:metabolism; D010651:Phenylalanine Hydroxylase / Q000032:analysis* / Q000378:metabolism; D010661:Phenylketonurias / Q000201:enzymology*; D011622:Pterins / Q000494:pharmacology; D014443:Tyrosine / Q000096:biosynthesis; D014446:Tyrosine 3-Monooxygenase / Q000378:metabolism
chemical_list: D002247:Carbon Isotopes; D008244:Lysophosphatidylcholines; D011622:Pterins; D014443:Tyrosine; D010649:Phenylalanine; D010651:Phenylalanine Hydroxylase; D014446:Tyrosine 3-Monooxygenase