Skip to Main content Skip to Navigation
Journal articles

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

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.
Document type :
Journal articles
Complete list of metadata

https://hal.univ-lorraine.fr/hal-01661680
Contributor : Ngere Ul Connect in order to contact the contributor
Submitted on : Tuesday, December 12, 2017 - 9:58:23 AM
Last modification on : Tuesday, October 13, 2020 - 10:47:25 AM

Links full text

Identifiers

Collections

Citation

Maria Giżewska, Anita Macdonald, Amaya Bélanger-Quintana, Alberto Burlina, Maureen Cleary, et al.. Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results. European Journal of Pediatrics, Springer Verlag, 2016, 175 (2), pp.261 - 272. ⟨10.1007/s00431-015-2622-5⟩. ⟨hal-01661680⟩

Share

Metrics

Record views

159