Comparison of Fluorometric Immunoassay and Tandem Mass Spectrometry Methods Used in the Diagnosis of Phenylalanine Metabolism Disorders in Turkish Children

Abstract

Introduction: Phenylketonuria is one of the common causes of preventable mental retardation. Therefore, dietary and/or cofactor therapy initiated by early detection of the disease is of great clinical importance. In this study, the specificity and sensitivity of fluorescence immunoassay (FIA), tandem mass spectrometry (MS/MS) and plasma amino acid analysis methods used in the diagnosis of phenylalanine metabolism disorder (PMD) were compared.