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Table 3 Birth prevalence estimates scoring strong on diagnostic method for case confirmation (n = 54 publications)

From: Birth prevalence of phenylalanine hydroxylase deficiency: a systematic literature review and meta-analysis

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]
  1. CI = confidence interval; CT = Connecticut; FL = Florida; HPA = hyperphenylalaninemia; KS = Kansas; KY = Kentucky; MA = Massachusetts; NC = North Carolina; NR = not reported; NY = New York; OK = Oklahoma; PA = Pennsylvania; Phe = phenylalanine; PKU = phenylketonuria; TX = Texas; UAE = United Arab Emirates; US = United States; USSR = Union of Soviet Socialist Republics; VA = Virginia; WV = West Virginia
  2. aEstimate contributes to meta-analysis with diagnostic cutoff value 360 µmol/L
  3. bEstimate contributes to meta-analysis with diagnostic cutoff value 600 µmol/L
  4. cEstimate contributes to meta-analysis with diagnostic cutoff value 1200 µmol/L
  5. dEstimate contributes to overall meta-analysis
  6. eThis table includes only estimates for which the method of diagnosis confirmation was considered “strong” in the quality of evidence scoring tool
  7. fNominal diagnoses as provided in associated reference