title: Phenylketonuria screening and management in southeastern Europe - survey results from 11 countries.
abstract: BACKGROUND
  We aimed to assess the current state of PKU screening and management in the region of southeastern Europe.
  
  
  METHODS
  A 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.
  
  
  RESULTS
  Responses 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.
  
  
  CONCLUSIONS
  The 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.
authors.affiliation: University Children's Hospital Ljubljana, UMC Ljubljana, Ljubljana, Slovenia. mojca.tansek@mf.uni-lj.si.
authors.forename: Mojca
authors.initials: M
authors.lastname: Zerjav Tansek
authors.affiliation: University Children's Hospital Ljubljana, UMC Ljubljana, Ljubljana, Slovenia. urh.groselj@kclj.si.
authors.forename: Urh
authors.initials: U
authors.lastname: Groselj
authors.affiliation: University Children's Hospital Skopje, Skopje, Macedonia. nangelkova2002@yahoo.com.
authors.forename: Natalija
authors.initials: N
authors.lastname: Angelkova
authors.affiliation: Clinical Hospital for Children "Sfanta Maria", Iasi, Romania. antondana66@yahoo.com.
authors.forename: Dana
authors.initials: D
authors.lastname: Anton
authors.affiliation: Department of Pediatrics, University Hospital Center Zagreb, Zagreb, Croatia. ibaric@kbc-zagreb.hr.|School of Medicine, University of Zagreb, Zagreb, Croatia. ibaric@kbc-zagreb.hr.
authors.forename: Ivo
authors.initials: I
authors.lastname: Baric
authors.affiliation: Mother and Child Health Care Institute of Serbia, Belgrade, Serbia. mayamarko@gmail.com.
authors.forename: Maja
authors.initials: M
authors.lastname: Djordjevic
authors.affiliation: University Hospital Center "Mother Teresa", Tirana, Albania. linditagrimci@yahoo.com.
authors.forename: Lindita
authors.initials: L
authors.lastname: Grimci
authors.affiliation: National Genetics Laboratory, Sofia, Bulgaria. ivanovam@yahoo.com.
authors.forename: Maria
authors.initials: M
authors.lastname: Ivanova
authors.affiliation: University Pediatric Hospital Sofia, Sofia, Bulgaria. hadil@abv.bg.
authors.forename: Adil
authors.initials: A
authors.lastname: Kadam
authors.affiliation: Pediatric Clinic, University Clinical Center Pristina, Pristina, Kosovo. vjosakotori@hotmail.com.
authors.forename: Vjosa
authors.initials: V
authors.lastname: Kotori
authors.affiliation: University Clinical Center Sarajevo, Sarajevo, Bosnia and Herzegovina. hajrijam@lol.ba.
authors.forename: Hajrija
authors.initials: H
authors.lastname: Maksic
authors.affiliation: Clinical Hospital of Targu Mures, Targu Mures, Romania. marginean.oana@gmail.com.
authors.forename: Oana
authors.initials: O
authors.lastname: Marginean
authors.affiliation: Clinica Hospital for Children "Luis Turcanu", Timisoara, Romania. otiliamargineanu@yahoo.com.
authors.forename: Otilia
authors.initials: O
authors.lastname: Margineanu
authors.affiliation: Institute for Sick Children, Clinical Center of Montenegro, Podgorica, Montenegro. oliveram@ac.me.
authors.forename: Olivera
authors.initials: O
authors.lastname: Miljanovic
authors.affiliation: Mother and Child Health Care Institute "Alfred Rusescu", Bucharest, Romania. florentina.moldovanu@gmail.com.
authors.forename: Florentina
authors.initials: F
authors.lastname: Moldovanu
authors.affiliation: Clinical Hospital for Children "Iuliu Hateganu", Cluj-Napoca, Romania. marianamuresan2@gmail.com.
authors.forename: Mariana
authors.initials: M
authors.lastname: Muresan
authors.affiliation: Mother and Child Health Care Institute "Alfred Rusescu", Bucharest, Romania. micka@clicknet.ro.
authors.forename: Michaela
authors.initials: M
authors.lastname: Nanu
authors.affiliation: Institute for Sick Children, Clinical Center of Montenegro, Podgorica, Montenegro. samardzic@t-com.me.
authors.forename: Mira
authors.initials: M
authors.lastname: Samardzic
authors.affiliation: Department of Pediatrics, University Hospital Center Zagreb, Zagreb, Croatia. vladosarna@yahoo.com.
authors.forename: Vladimir
authors.initials: V
authors.lastname: Sarnavka
authors.affiliation: National Genetics Laboratory, Sofia, Bulgaria. alexey.savov@abv.bg.
authors.forename: Aleksei
authors.initials: A
authors.lastname: Savov
authors.affiliation: Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Belgrade, Serbia. maja.stojiljkovic@imgge.bg.ac.rs.
authors.forename: Maja
authors.initials: M
authors.lastname: Stojiljkovic
authors.affiliation: Children Hospital Banja Luka, Banja Luka, Republic of Srpska, Bosnia and Herzegovina. biljanas@blic.net.
authors.forename: Biljana
authors.initials: B
authors.lastname: Suzic
authors.affiliation: University Pediatric Hospital Sofia, Sofia, Bulgaria. radka.tincheva@gmail.com.
authors.forename: Radka
authors.initials: R
authors.lastname: Tincheva
authors.affiliation: Department of Medical Sciences, Academy of Sciences and Arts of Bosnia and Herzegovina, Sarajevo, Bosnia and Herzegovina. husref.tahirovic@untz.ba.
authors.forename: Husref
authors.initials: H
authors.lastname: Tahirovic
authors.affiliation: Department of Pediatrics, University Clinical Center Tuzla, Tuzla, Bosnia and Herzegovina. almatoromanovic@bih.net.ba.
authors.forename: Alma
authors.initials: A
authors.lastname: Toromanovic
authors.affiliation: Institute of Mother and Child, Centre of Reproductive Health and Medical Genetics, Chisinau, Moldova. natalia.usurelu@yahoo.com.
authors.forename: Natalia
authors.initials: N
authors.lastname: Usurelu
authors.affiliation: University Children's Hospital Ljubljana, UMC Ljubljana, Ljubljana, Slovenia. tadej.battelino@mf.uni-lj.si.|Department of Pediatrics, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia. tadej.battelino@mf.uni-lj.si.
authors.forename: Tadej
authors.initials: T
authors.lastname: Battelino
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D019468:Disease Management; D005060:Europe; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010661:Phenylketonurias / Q000175:diagnosis* / Q000453:epidemiology; D011795:Surveys and Questionnaires; D055815:Young Adult