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

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Gizewska M., MacDonald A., Belanger-Quintana A., Burlina A., Cleary M., COŞKUN T., ...More

EUROPEAN JOURNAL OF PEDIATRICS, vol.175, no.2, pp.261-272, 2016 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 175 Issue: 2
  • Publication Date: 2016
  • Doi Number: 10.1007/s00431-015-2622-5
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.261-272
  • Hacettepe University Affiliated: Yes


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.