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Phenylketonuria (PKU) is the most common autosomal recessive inborn error of amino acid metabolism. If not diagnosed and treated, the amino acid phenylalanine (Phe) will accumulate due to deficiency of the enzyme phenylalanine hydroxylase (PAH), necessary to facilitate the hydroxylation of phenylalanine to tyrosine. In untreated patient phenylalanine accumulates in the body and leads to adverse toxic effects of a disease that are manifested as deterioration, seizures, microcephaly, mental retardation and other symptoms such as lighter hair, eyes and skin, the specific body odor, behavioral disorders, attention deficit and lack of concentration. There is a rare form of the disease (about 1–2%) caused by the deficiency of tetrahydrobiopterin (BH4) cofactor [1–4]. Phenylketonuria was discovered by a physician a biochemist from Norway, Ivar Asbjørn Følling in 1934. A gene encoding the phenylalanine hydroxylase synthesis is localized on the chromosome 12 (12q23.2) and consists of 13 exons. More than 950 mutations of this gene have been discovered so far [1, 4]. Depending on the degree of enzyme deficiency, disease can be divided in several forms: Classical phenylketonuria the most severe, with the highest deficit of phenylalanine hydroxylase enzyme and phenylalanine concentration greater than 20 mg/dL (Phe > 1,200 mmol/L). Moderate PKU there is residual enzyme activity, the concentration of phenylalanine is 15–20 mg/dL (Phe 900–1200 μmol/L). Mild form of PKU there is a higher residual activity of the enzyme and the concentration of phenylaSummary 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.

Fourteen years of newborn screening for phenylketonuria in Vojvodina