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Table 2 Phenylketonuria – single center characteristics and experiences

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

  No. of patient on diet Lost to follow-up (<1 y; <18 y; >18 y) Diet in cPKU and other HPA No. BH4 def. Genotype analyses Phe lab. methods BH4 therapy use PKU team membersa Psychological assessmentsb Pregnant PKU women? (No.)
Albania 1c - - 0 No - No 0 - No
Bosnia – FBH (without Sarajevo Canton) 8 0; 30 %; 50 % (est.) 6; 2 0 No F No 0 Not regular No
Bosnia – Rep. Srpska 10 0; 0; 0 5; 5 0 No F No 0; 1; 3 Every 6–12 mo. No
Bosnia – Sarajevo 2 Nd 2; 0 0 No F No 0; 2 Every 12 mo. No
Bulgaria 48 0; 0; 34 47; 1 0 Yes F Yes 0; 1; 2; 3 Every 12 mo. In past (3)
Croatia 116 0; 20 %; 61 % (est.) 81; 35 0 Not routinely C; F; G No 0; 1; 2; 3 Every 12–48 mo. Yes (10)
Kosovo 0 - - 0 No - No 0 - No
Macedonia 2 0; 1; 1 2; 0 0 No C No 0 Every 12 mo. No
Moldova 46 3; 7; 2 31; 15 0 Yesd C; F No 0; 2; 4 No Yes (3)
Montenegro 0 - - 0 No - No 0 - No
Romania 83 0; 0; Nd 63; 20 5 No F Noe 0; 1; 4 Every 6 mo. No
Serbia 35 0; 3; 20 18; 17 1 Yes C; F No 0 Every 6 mo. Yes (2)
Slovenia 96 0; 0; 16 70; 26 2 Yes C; F; T Yes 0; 3 Not regular Yes (9)
  1. BH4 tetrahydrobiopterine; C Chromatography; cPKU classic phenylketonuria; def. deficiency; est. estimation; F Fluorimetric method; FBH Federation of Bosnia and Herzegovina; G Guthrie’s test; HPA hyperphenylalaninemia; lab. laboratory; mo. months; Nd no data available; No. number; PKU phenylketonuria; Rep. Republic; T Tandem mass spectrometry; y year(s)
  2. aPKU team members: 0 – physicians; 1 – psychologists; 2 – nurses; 3 – dietitians; 4 – biologists
  3. bWhere performed, diverse developmental tests are used, without involvement of a neuropsychologist
  4. cManaged in Turkey
  5. d6 most common PAH alleles
  6. ePlanned in near future and will be financed by the health insurance