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

Table 1 Demographics and general phenylketonuria screening and management characteristics

	Total pop. (millions)	GDP per cap. in 2012 (USD)	First year of PKU screening	Screened / all nbs in 2012	Classic PKU incidence	Phe screening cut-off (mg/dl)	Age when screened (h)	National PKU registry	No. patients in the PKU registry	Children/Adults care
Albania	2.83	9403	NI	-/35,295	Unknown	-	-	No	-	Nd
Bosnia – FBH (without Sarajevo Canton)	2.07	9392	2001(Tz) 2005	16,915^a/16,790	1/29,998 (est.)	4	48–120	No	-	Ped/Ped
Bosnia – Rep. Srpska	1.33	9392	1986 (BL), 2007	9907/9978	1/34,817 (est.)	2.1–3	48–72	In prep.	-	Ped/Ped
Bosnia – Sarajevo Canton	0.44	9392	2006	5152/5167	Unknown	2.1	24 (96 if CS)	No	-	Ped/Ped
Bulgaria	7.36	16,041	1979	62,496/69,121	1/28,370 ^b	3.3	72	Yes	74^c	Ped/Int
Croatia	4.28	20,961	1978 (Zg), 1986	41,606/41,700	1/12,000 ^d	4	72	Yes	194	Ped/Ped
Kosovo	1.74	8436	NI	-/34,262	Unknown	-	-	No	-	Nd
Macedonia	2.06	11,834	NI	-/23752	Unknown	-	-	No	-	Ped/Int
Moldova	3.50	4219	1989	36,654/39,641	1/7325^e	3	>48	Yes	101	Gen/Gen
Montenegro	0.63	14,358	NI	-/8156	Unknown	-	-	No	-	Nd
Romania	18.91	18,063	2011	141,204/195,000	1/10,000 (est.)	3	48–72	Yes	40^c	Ped/Int
Serbia (without Vojvodina)	7.18	11,801	1983	52,094/49,325^f	1/39,338 ^g	2	48–72	Yes	63	Ped/Ped
Slovenia	2.05	28,476	1979	21,888/21,938	1/10,000^h	2.1–3	48–72	Yes	145	Ped/Ped

BL only in region Banja Luka; cap capita; CS cesarean section; est. estimation; FBH Federation of Bosnia and Herzegovina; GDP gross domestic product; Gen geneticists; h hours; Int internists; nbs newborns; Nd no data available; NI not introduced yet; Ped pediatricians; Phe phenylalanine; PKU phenylketonuria; prep. preparation; Rep. Republic; Tz only in Tuzla Canton; Zg only in city Zagreb
^aNumber includes some newborns from Brcko District
^bKremensky et al, please see ref. [17]
^cBulgarian national PKU registry was established in the year 2000; Romanian national PKU registry was established in the year 2011. Both are including only patients diagnosed afterwards
^dKaracic et al, please see ref. [23]
^eHyperphenylalaninemias cumulatively; Published in: Boiciuc K, Usurelu N, Stratila M, Sacara V: Fenilcetonuria in Rešpublica Moldova – diagnosticul prin screening neonatal si analiza molecular genetic. In Patologa malformativa neonatal. Edited by Stamatin M, Stratulat P. Zilele Neonatologiei Moldave, Technopress; 2013:146–153
^fNumber of screened newborns includes some screening cards from Vojvodina and Montenegro
^gStojiljkovic et al, please see ref. [18]
^hGroselj et al, please see ref. [22]

ISSN: 1750-1172