Abstract
BackgroundWe aimed to assess the current state of PKU screening and management in the region of southeastern Europe.MethodsA survey was performed involving all identified professionals responsible for the PKU management in the 11 countries from South-Eastern region of Europe (Albania, Bulgaria, Bosnia and Herzegovina, Croatia, Kosovo, Macedonia, Moldova, Montenegro, Romania, Serbia, Slovenia). The questionnaire was designed to assess the characteristics regarding PKU management in three main areas: nation-wide characteristics, PKU screening, and characteristics of the PKU management in the responding centre. It consisted of 56 questions. The distribution and collection of the questionnaires (via e-mail) was taking place from December 2013 to March 2014.ResultsResponses from participants from 11 countries were included; the countries cumulative population is approx. 52.5 mio. PKU screening was not yet introduced in 4 of 11 countries. Reported PKU incidences ranged from 1/7325 to 1/39338 (and were not known for 5 countries). National PKU guidelines existed in 5 of 11 countries and 7 of 11 countries had PKU registry (registries included 40 to 194 patients). The number of PKU centers in each country varied from 1 to 6. Routine genetic diagnostics was reported in 4 of 11 countries. Most commonly used laboratory method to assess phenylalanine levels was fluorometric. Tetrahydrobiopterine was used in only 2 of 11 countries. Most frequently, pediatricians were caring for the patients. Dietitian was a member of PKU team in only 4 of 11 countries, while regular psychological assessments were performed in 6 of 11 countries. Patient’s PKU society existed in 7 of 11 countries.ConclusionsThe region of southeastern Europe was facing certain important challenges of PKU screening and management. Neonatal PKU screening should be introduced throughout the region. Furthermore, PKU management was falling behind internationally established standards-of-care in many aspects.Electronic supplementary materialThe online version of this article (doi:10.1186/s13023-015-0283-0) contains supplementary material, which is available to authorized users.
Highlights
We aimed to assess the current state of PKU screening and management in the region of southeastern Europe
PKU is caused by the deficiency of hepatic phenylalanine hydroxylase (PAH; EC 1.14.16.1), which catalyzes the hydroxylation of phenylalanine (Phe) to tyrosine (Tyr)
Since very scarce data exist on PKU management in region of southeastern Europe, the aim of our study was to assess the current state of PKU screening and management in the region of southeastern Europe (i.e. Balkan Peninsula countries)
Summary
We aimed to assess the current state of PKU screening and management in the region of southeastern Europe. Recommendations and reviews on PKU screening and management agree on some basic facts and requirements. The European Society for Phenylketonuria and Allied Disorders (E.S.PKU) proposed a need for recommendations for a minimum standard of care for PKU, guaranteeing equal access to screening, treatment and monitoring throughout Europe [9]. PKU screening and management practices vary widely throughout the individual PKU centers, countries and regions, and large parts of the world might fall behind even the basic standards. Few previous international studies on PKU management have been performed, mostly focusing on the more developed parts of Europe, while large parts of eastern and southeastern Europe could not be assessed in previous European surveys [10,11,12,13,14,15]
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