Diagnostik og behandling af fenylketonuri

Allan Bayat, Libeth Birk Møller, Allan Meldgaard Lund

    Publikation: Bidrag til tidsskriftReviewForskningpeer review


    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.

    Bidragets oversatte titelDiagnostics and treatment of phenylketonuria
    TidsskriftUgeskrift for laeger
    Udgave nummer8
    StatusUdgivet - 16 feb. 2015


    • Biopterin/administration & dosage
    • Denmark/epidemiology
    • Diet, Protein-Restricted
    • Dietary Supplements
    • Humans
    • Phenylalanine/blood
    • Phenylketonurias/diagnosis


    Udforsk hvilke forskningsemner 'Diagnostik og behandling af fenylketonuri' indeholder.