A current view of the diagnostics and treatment of phenylketonuria in Slovakia

Abstract

Abstract An overview of the diagnostics and treatment of phenylketonuria in Slovakia is presented in this paper. The nature of diseases, incidence and prevalence in Slovakia, its genetic characteristics, current laboratory diagnostics and treatment options are defined. A new method of phenylketonuria screening in Slovakia, which has brought substantial improvement in early detection of the disease and shortening time for definitive diagnosis since 1995 as well as the importance of a tandem MS/MS (mass spectrometry) introduced in the diagnosis of inherited metabolic disorders, is presented. The current state of phenylketonuria treatment focusing on low-protein dietary treatment and supplementation of amino acid mixtures is analysed. The use of sapropterin, enzyme replacement therapy, large neutral amino acids supplementation and gene therapy are also discussed.