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

European Journal of Pediatrics
M GizewskaNenad Blau

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 ne...Continue Reading

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Citations

Feb 26, 2016·Journal of Pediatric Endocrinology & Metabolism : JPEM·Mojca Zerjav TansekTadej Battelino
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Sep 3, 2021·The Journal of Pediatrics·Annemiek M J van WegbergUNKNOWN Study Group on Missed PKU and Missed to Follow-Up

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