Phenylketonuria screening and management in southeastern Europe – survey results from 11 countries

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.

Expanded Newborn Screening for Inborn Errors of Metabolism and Genetic Characteristics in a Chinese Population

“…The incidence of phenylketonuria varies in countries and regions ( Williams et al, 2008 ). For example, the incidence of phenylketonuria varies from 1/7325 to 1/39,338 in countries of southeastern Europe, while the incidences are 1/11,400 in the United States and 1/4172 in Turkey ( Hertzberg et al, 2011 ; Zerjav Tansek et al, 2015 ). The incidence of phenylketonuria is 1/11,614 in China based on the newborn screening data of past 30 years ( Shi et al, 2012 ).…”

Phenylketonuria screening in the Republic of Macedonia

“…Tansek Z et al recently reported in Orphanet Journal of Rare Disease assessment of the current state of PKU screening and management in the region of southeastern Europe [ 4 ]. The survey included 11 countries from South-Eastern region of Europe including Macedonia.…”

“…We are grateful to profs. Kocova and Anastasovska to further elucidate the situation regarding the phenylketonuria (PKU) newborn screening in Macedonia [ 4 , 6 ]. As reported, the selective newborn screening program for inborn errors of metabolism (IEM) was already introduced in Macedonia in 2011.…”

“…Over 50 years after the Guthrie’s landmark discovery and the subsequent implementation of the first newborn screening programs for PKU, many countries in southeastern Europe and other developing regions have not yet introduced the newborn screening for PKU or face significant problems in its implementation [ 4 , 7 ]. They may fail to screen their entire populations, or to maintain continuity in their newborn screening programs, or to provide an adequate subsequent clinical management.…”

“…They may fail to screen their entire populations, or to maintain continuity in their newborn screening programs, or to provide an adequate subsequent clinical management. As a rule, only scarce data is available on these regions and it is frequently hard to get reliable data [ 4 , 7 ]. Nevertheless, the introduction of the newborn screening for PKU is a cost-effective practice also in a developing country [ 8 ].…”