Fourteen years of newborn screening for phenylketonuria in Vojvodina

Abstract

Introduction. Phenylketonuria is an inborn disorder of metabolism, a rare, hereditary disease caused by deficiency of phenylalanine hydroxylase enzyme necessary for conversion of phenylalanine into tyrosine. The aim of this study is to determine the incidence of hyperphenylalaninemia and classical phenylketonuria in population of the Autonomous Province of Vojvodina. Material and Methods. We performed retrospective analysis at Medical Genetics Service, the Institute for Youth and Health Care of Vojvodina and examined the clinical material of the previous fourteen years, during the interval from 2003-2016. The analysis of the obtained results was carried out using descriptive statistics. Results. During fourteen years, from 01.01.2003 to 31.12.2016, 27 newborns with hyperphenylalaninemia were detected, and the incidence of hyperphenylalaninemia in the Autonomous Province of Vojvodina was 1: 9.525. Classical phenylketonuria was detected in 15 persons during indicated period, and the incidence was 1:17.143. Conclusion. Phenylketonuria is a hereditary disease whose adverse effects can be avoided, if it is recognized in time, and if recommended treatment measures are adequately applied, thereby improving the quality of life of persons affected by the disease as well as the whole family, that is facilitated by the introduction and implementation of neonatal screening.