Country | Birth prevalence per 10,000 newborns (95% CI) | Phe cutoff value for confirmatory diagnosis (µmol/L) | Score for additional quality of evidence domainse | References | |||
---|---|---|---|---|---|---|---|
Case definition | Study setting source population | Statistical methods | Precision of prevalence estimate | ||||
Europe | |||||||
Austria (Eastern, PKUf) | 1.3 (0.92–1.83)d | NR | Weak | Strong | Strong | Strong | Thalhammer [49] |
Austria (Eastern, HPAf) | 0.49 (0.28–0.85)d | NR | Weak | Strong | Strong | Moderate | Thalhammer [49] |
Austria (Western, PKUf) | 0.45 (0.23–0.88)d | NR | Weak | Strong | Strong | Moderate | Thalhammer [49] |
Austria (Western, HPAf) | 0.5 (0.26–0.96)d | NR | Weak | Strong | Strong | Moderate | Thalhammer [49] |
Estonia | 0 (0–1.02)d | < 600 | Strong | Strong | Strong | Weak | Ounap et al. [38] |
Estonia | 1.66 (0.76–3.63)c,d | 1000 | Strong | Strong | Strong | Moderate | Ounap et al. [38] |
Finland | 0 (0–0.52)a,d | 363 | Moderate | Strong | Strong | Weak | Visakorpi et al. [39] |
Germany | 0.81 (0.66–1)d | NR | Weak | Strong | Strong | Strong | Lindner et al. [50] |
Germany | 0.78 (0.63–0.97)b,d | 600 | Moderate | Strong | Strong | Strong | Lindner et al. [50] |
Germany | 0.81 (0.65–1.01)a,d | 363– < 908 | Strong | Strong | Strong | Strong | Mathias and Bickel [51] |
Germany | 0.99 (0.81–1.21)a,d | 908 | Strong | Strong | Strong | Strong | Mathias and Bickel [51] |
Germany | 0.96 (0.65–1.43) | 600 | Strong | Strong | Strong | Strong | Schulze et al. [52] |
Germany | 1.24 (0.87–1.76) | 150–600 | Strong | Strong | Strong | Strong | Schulze et al. [52] |
Greece | 0.44 (0.05–1.61)d | NR | Moderate | Moderate | Strong | Weak | Loukas et al. [53] |
Greece | 0.41 (0.31–0.56)c,d | 1211 | Strong | Strong | Strong | Strong | Missiou-Tsagaraki et al. (1988) [54] |
Hungary | 0.85 (0.39–1.86)d | NR | Weak | Strong | Strong | Moderate | Mehes et al. [55] |
Italy (PKUf) | 1.38 (0.85–2.23)d | NR | Moderate | Weak | Strong | Moderate | Antonozzi et al. [56] |
Italy (HPAf) | 0.26 (0.05–0.75)d | NR | Moderate | Weak | Strong | Weak | Antonozzi et al. [56] |
Italy | 0.22 (0.15–0.32)c,d | 1211 | Strong | Strong | Strong | Strong | Zaffanello et al. [57] |
Italy | 0.78 (0.63–0.96)d | NR | Moderate | Strong | Strong | Strong | Zaffanello et al. [57] |
Macedonia | 2.46 (0.06–13.68)d | 151 | Moderate | Strong | Strong | Weak | Kocova and Anastasovska [41] |
Poland | 0.28 (0.22–0.34)a,d | 363–1211 | Strong | Moderate | Strong | Strong | Cabalska et al. [58] |
Poland | 1.29 (1.16–1.42)a,c,d | 1211 | Strong | Moderate | Strong | Strong | Cabalska et al. [58] |
Portugal | 0.82 (0.56–1.2)a,d | 360 | Strong | Strong | Strong | Strong | Vilarinho et al. [59] |
Portugal | 0.38 (0.22–0.66)d | 150–360 | Strong | Strong | Strong | Moderate | Vilarinho et al. [59] |
Slovakia | 1.69 (1.45–1.98)d | NR | Weak | Strong | Strong | Strong | Dluholucký et al. [60] |
Slovenia | 0.98 (0.72–1.35)b,c,d | 1200 | Strong | Strong | Moderate | Strong | Smon et al. [61] |
Slovenia | 0.39 (0.24–0.64)b,d | 600–900 | Strong | Strong | Moderate | Moderate | Smon et al. [61] |
Slovenia | 0.1 (0.03–0.27)b,d | 900–1200 | Strong | Strong | Moderate | Weak | Smon et al. [61] |
Spain | 0.66 (0.22–1.55)d | 240 | Strong | Strong | Strong | Weak | Fernández-Iglesias et al. [62] |
USSR/Russia | 1.5 (0.98–2.3)b,c,d | 1200 | Moderate | Strong | Strong | Strong | Gerasimova et al. [63] |
USSR/Russia | 0.36 (0.12–0.84)b,d | 600–1200 | Moderate | Strong | Strong | Weak | Gerasimova et al. [63] |
United Kingdom | 0.49 (0.36–0.67)c,d | 1200 | Strong | Moderate | Strong | Strong | Walker et al. [64] |
United Kingdom | 0.19 (0.11–0.31)d | 240 | Strong | Moderate | Strong | Moderate | Walker et al. [64] |
Yugoslavia | 0.22 (0.1–0.48)b,d | 605–902 | Strong | Moderate | Strong | Moderate | Mardesic et al. [65] |
Yugoslavia | 0.69 (0.44–1.08)b,d | 908 | Strong | Moderate | Strong | Strong | Mardesic et al. [65] |
Latin America | |||||||
Brazil (Laboratory A, 2005) | 0.36 (0.12–0.84)b,d | 605 | Strong | Strong | Strong | Weak | Botler et al. [66] |
Brazil (Laboratory A, 2006) | 0.59 (0.31–1.12)b,d | 605 | Strong | Strong | Strong | Intermediate | Botler et al. [66] |
Brazil (Laboratory A, 2007) | 0.35 (0.11–0.82)b,d | 605 | Strong | Strong | Strong | Weak | Botler et al. [66] |
Brazil (Laboratory B, 2005) | 0.52 (0.06–1.9)b,d | 605 | Strong | Strong | Strong | Weak | Botler et al. [66] |
Brazil (Laboratory B, 2006) | 0.84 (0.17–2.45)b,d | 605 | Strong | Strong | Strong | Weak | Botler et al. [66] |
Brazil (Laboratory B, 2007) | 0.91 (0.11–3.28)b,d | 605 | Strong | Strong | Strong | Weak | Botler et al. [66] |
Brazil | 0.92 (0.25–2.36)a–d | 1211 | Strong | Strong | Strong | Weak | Ramalho et al. [67] |
Brazil | 0.23 (0.01–1.28)a,d | 302–604 | Strong | Strong | Strong | Weak | Ramalho et al. [67] |
Brazil | 0.23 (0.01–1.28)a,b,d | 606–1210 | Strong | Strong | Strong | Weak | Ramalho et al. [67] |
Chile | 0.53 (0.45–0.63)c,d | 1211 | Strong | Strong | Strong | Strong | Cornejo et al. [68] |
Chile | 0.98 (0.86–1.11)d | NR | Intermediate | Strong | Strong | Strong | Cornejo et al. [68] |
Middle East/North Africa | |||||||
Iran | 0.15 (0.07–0.32)b,c,d | 1211 | Strong | Strong | Strong | Intermediate | Abbaskhanian et al. [69] |
Iran | 0.29 (0.17–0.52)d | 121–605 | Strong | Strong | Strong | Intermediate | Abbaskhanian et al. [69] |
Iran | 0.22 (0.12–0.42)b,d | 606–1210 | Strong | Strong | Strong | Intermediate | Abbaskhanian et al. [69] |
Iran | 1.6 (1.11–2.31)a,d | 424 | Strong | Strong | Strong | Strong | Habib et al. [44] |
Iran | 0.52 (0.14–1.33)d | 121– < 1211 | Strong | Strong | Strong | Weak | Karamifar et al. [70] |
Iran | 0.39 (0.08–1.14)c,d | 1211 | Strong | Strong | Strong | Weak | Karamifar et al. [70] |
Iran | 1.92 (1.53–2.41)d | NR | Intermediate | Strong | Intermediate | Strong | Motamedi et al. [71] |
Saudi Arabia | 0.68 (0.52–0.89)d | 180 | Strong | Strong | Strong | Strong | Alfadhel et al. [72] |
Turkey (classical PKUf) | 1.35 (1.18–1.54)d | NR | Weak | Strong | Strong | Strong | Ozalp et al. [73] |
Turkey (mild PKUf) | 0.64 (0.52–0.77)d | NR | Weak | Strong | Strong | Strong | Ozalp et al. [73] |
Turkey (mild HPAf) | 0.36 (0.28–0.47)d | NR | Weak | Strong | Strong | Strong | Ozalp et al. [73] |
UAE | 0.76 (0.57–0.99)c,d | 1211 | Strong | Strong | Strong | Strong | Al Hosani et al. [74] |
North America | |||||||
Canada (Alberta) | 0.50 (CI not estimable) | NR | Weak | Intermediate | Strong | Weak | Somers and Favreau [37] |
Canada (Ontario, PKUf) | 0.60 (CI not estimable) | NR | Weak | Intermediate | Strong | Weak | Somers and Favreau [37] |
Canada (Ontario, HPAf) | 0.29 (CI not estimable) | NR | Weak | Intermediate | Strong | Weak | Somers and Favreau [37] |
US (NC) | 0.08 (0.01–0.3) | 157 | Intermediate | Strong | Strong | Weak | Frazier et al. [42] |
US (NC) | 0.46 (0.26–0.82) | 250 | Intermediate | Strong | Strong | Intermediate | Frazier et al. [42] |
US (NC) | 0.52 (0.39–0.69)a,d | 300 | Intermediate | Strong | Strong | Strong | Frazier et al. [42] |
US (NY) | 0.1 (0.05–0.2)d | 908– < 1211 | Strong | Strong | Intermediate | Intermediate | Hansen et al. [75] |
US (NY) | 0.53 (0.39–0.72)c,d | 1211 | Strong | Strong | Intermediate | Strong | Hansen et al. [75] |
US (NY) | 0.14 (0.07–0.25)d | NR | Intermediate | Strong | Intermediate | Intermediate | Hansen et al. [75] |
US (NY) | 0.7 (0.52–0.93)d | NR | Intermediate | Strong | Intermediate | Strong | Kelly and Palombi [76] |
US (MA) | 1.04 (0.62–1.75)d | NR | Intermediate | Strong | Strong | Intermediate | Maccready and Hussey [28] |
US (CT) | 0.83 (CI not estimable) | NR | Weak | Intermediate | Strong | Weak | Somers and Favreau [37] |
US (FL) | 1.00 (CI not estimable) | NR | Weak | Intermediate | Strong | Weak | Somers and Favreau [37] |
US (KS) | 0.80 (CI not estimable) | NR | Weak | Intermediate | Strong | Weak | Somers and Favreau [37] |
US (KY) | 0.87 (CI not estimable) | NR | Weak | Intermediate | Strong | Weak | Somers and Favreau [37] |
US (OK) | 0.59 (CI not estimable) | NR | Weak | Intermediate | Strong | Weak | Somers and Favreau [37] |
US (PA, PKUf) | 0.78 (CI not estimable) | NR | Weak | Intermediate | Strong | Weak | Somers and Favreau [37] |
US (PA, HPAf) | 0.18 (CI not estimable) | NR | Weak | Intermediate | Strong | Weak | Somers and Favreau [37] |
US (TX) | 0.38 (CI not estimable) | NR | Weak | Intermediate | Strong | Weak | Somers and Favreau [37] |
US (VA) | 0.57 (CI not estimable) | NR | Weak | Intermediate | Strong | Weak | Somers and Favreau [37] |
US (WV) | 0.67 (CI not estimable) | NR | Weak | Intermediate | Strong | Weak | Somers and Favreau [37] |
US (PA) | 0.43 (0.29–0.64)a,d | 363 | Strong | Strong | Strong | Strong | Wainer and Sideman [43] |
US (PA) | 0.9 (0.68–1.19)d | NR | Intermediate | Strong | Strong | Strong | Wainer and Sideman [43] |
US (New England) | 0.27 (0.13–0.56)d | NR | Intermediate | Strong | Strong | Intermediate | Zytkovicz et al. [77] |
US (New England) | 0.43 (0.24–0.77)d | NR | Intermediate | Strong | Strong | Intermediate | Zytkovicz et al. [77] |
Southeast Asia | |||||||
Thailand | 0.04 (0.01–0.08) | NR | Intermediate | Strong | Strong | Weak | Charoensiriwatana et al. [78] |
Thailand | 0.05 (0.02–0.11) | 1211 | Strong | Strong | Strong | Weak | Pangkanon et al. [79] |
Thailand | 0.03 (0.02–0.05)c,d | 1200 | Intermediate | Strong | Strong | Intermediate | Pangkanon et al. [80] |
Thailand | 0 (0–2.12) | NR | Intermediate | Intermediate | Strong | Weak | Ratrisawadi et al. [40] |
Thailand | 0.04 (0.01–0.1) | NR | Intermediate | Strong | Strong | Weak | Sutivijit et al. [81] |
West Pacific | |||||||
Australia | 0.26 (0.09–0.61)d | 200–300 | Intermediate | Intermediate | Strong | Weak | Boneh et al. [34] |
Australia | 0.37 (0.18–0.76)b,d | 600–1200 | Intermediate | Intermediate | Strong | Intermediate | Boneh et al. [34] |
Australia | 0.05 (0–0.29)b,d | 2600 | Intermediate | Intermediate | Strong | Weak | Boneh et al. [34] |
China | 0.17 (0.08–0.36) | 242–1211 | Strong | Strong | Strong | Intermediate | Chen et al. [82] |
China | 0.59 (0.38–0.89)c | 1211 | Strong | Strong | Strong | Strong | Chen et al. [82] |
China | 0.38 (0.23–0.64)d | NR | Weak | Strong | Strong | Intermediate | Lin et al. [29] |
China | 0.1 (0.01–0.36)a,d | 363– < 908 | Strong | Strong | Strong | Weak | Liu and Zuo [83] |
China | 0.5 (0.27–0.93)a,d | 908 or 1211 | Strong | Strong | Strong | Intermediate | Liu and Zuo [83] |
China | 0.4 (0.34–0.47) | NR | Intermediate | Strong | Strong | Strong | Maitusong et al. [84] |
China | 0.91 (0.65–1.28) | NR | Weak | Intermediate | Strong | Strong | Shi et al. [85] |
China | 0.65 (0.48–0.9)a,c,d | 1200 | Strong | Strong | Weak | Strong | Su et al. [86] |
China | 0.28 (0.17–0.45)d | 120–360 | Strong | Strong | Weak | Intermediate | Su et al. [86] |
China | 0.98 (0.76–1.27)a,d | 360–1200 | Strong | Strong | Weak | Strong | Su et al. [86] |
China | 0.88 (0.46–1.67) | NR | Weak | Strong | Strong | Intermediate | Tu et al. [87] |
China | 0.07 (0.01–0.21)a–d | 1200 | Strong | Strong | Strong | Weak | Wang et al. [88] |
China | 0.1 (0.03–0.24)d | 120–360 | Strong | Strong | Strong | Weak | Wang et al. [88] |
China | 0.05 (0.01–0.17)a,d | 360–600 | Strong | Strong | Strong | Weak | Wang et al. [88] |
China | 0.14 (0.07–0.31)a,b,d | 600–1200 | Strong | Strong | Strong | Intermediate | Wang et al. [88] |
China | 0.86 (0.82–0.91)d | NR | Intermediate | Strong | Strong | Strong | Zhan et al. [89] |
South Korea | 0.51 (0.14–1.29)c,d | 1200 | Strong | Strong | Strong | Weak | Yoon et al. [90] |
Taiwan | 0.27 (0.2–0.36)d | 120– < 600 | Strong | Strong | Strong | Strong | Niu et al. [91] |
Taiwan | 0.13 (0.09–0.21)b,d | 600– < 1200 | Strong | Strong | Strong | Strong | Niu et al. [91] |
Taiwan | 0.03 (0.01–0.08)b–d | 1200 | Strong | Strong | Strong | Weak | Niu et al. [91] |