Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region:survey results

In: Gizewska , M , MacDonald , A , Belanger-Quintana , A , Burlina , A , Cleary , M , Coskun , T , Feillet , F , Muntau , A C , Trefz , F K , van Spronsen , F J & Blau , N 2016 , ' Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region : survey results ' , European Journal of Pediatrics , vol. 175 , no. 2 , pp. 261-272 . https://doi.org/10.1007/s00431-015-2622-5 ; ISSN:0340-6199

Abstract

To avoid potentially severe outcomes, phenylketonuria (PKU) must be detected as soon as possible after birth and managed with life-long treatment. A questionnaire-based survey was performed to document diagnosis and management practices for PKU in a region of Southern and Eastern Europe. Prevalence and management data were obtained from 37/59 (63 %) centres within 19/22 (86 %) contacted countries (N = 8600 patients). The main results' analysis was based on completed questionnaires obtained from 31 centres (53 %) within 15 countries (68 %). A median of 10 % of patients per centre had been diagnosed after the newborn period. Metabolic dieticians and specialised adult PKU clinics were lacking in 36 and 84 % of centres, respectively. In 26 % of centres, treatment initiation was delayed until > 15 days of life. Blood phenylalanine (Phe) thresholds to start treatment and upper Phe targets were inconsistent across centres. Ten percent of centres reported monitoring Phe every 2 weeks for pregnant women with PKU, which is insufficient to minimise risk of neonatal sequalae. Sapropterin dihydrochloride treatment was available in 48 % of centres, with 24-h responsiveness tests most common (36 %). Only one centre among the five countries lacking newborn screening provided a completed questionnaire. Conclusion: Targeted efforts by health care professionals and governments are needed to optimise diagnostic and management approaches for PKU in Southern and Eastern Europe.