title: [Diagnostics and treatment of phenylketonuria].
abstract: Primary phenylalanine hydroxylase deficiency, also known as phenylketonuria, results in accumulation of phenylalanine in the blood. Early identification and treatment prevents the majority of clinical sequelae to the disease, but psychological and neurodevelopmental problems can occur in some patients. This article reviews the symptoms, diagnosis, classification and strategies of treatment and management of phenylketonuria. Finally we review new pharmacological and non-pharmaco-logical means of treatment.
authors.affiliation: Klinisk Genetisk Klinik, Rigshospitalet, Blegdamsvej 9, 2100 København. bayabayabayat@hotmail.com.
authors.forename: Allan
authors.initials: A
authors.lastname: Bayat
authors.forename: Libeth Birk
authors.initials: LB
authors.lastname: Møller
authors.forename: Allan Meldgaard
authors.initials: AM
authors.lastname: Lund
mesh_terms: D001708:Biopterins / Q000008:administration & dosage / Q000031:analogs & derivatives / Q000627:therapeutic use; D003718:Denmark / Q000453:epidemiology; D018753:Diet, Protein-Restricted; D019587:Dietary Supplements; D006801:Humans; D010649:Phenylalanine / Q000097:blood; D010661:Phenylketonurias / Q000175:diagnosis / Q000178:diet therapy / Q000188:drug therapy / Q000453:epidemiology
chemical_list: D001708:Biopterins; D010649:Phenylalanine