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) |