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Table 4 Meta-analysisa of birth prevalence estimates stratified by region and by phenylalanine diagnostic cutoff value

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

Region Birth prevalence per 10,000 screened (95% CI) I2 (%) Number of estimates Reference(s) Country
Confirmatory test phenylalanine cutoff value of 360 ± 100 µmol/L  
Europe 0.97 (0.52–1.53) 93.8 4 Cabalska et al. [58] Poland
Mathias and Bickel [51] Germany
Vilarinho et al. [59] Portugal
Visakorpi et al. [39] Finland
Latin America 1.38 (0.51–3.01) NA 1 Ramalho et al. [67] Brazil
Middle East/North Africa 1.60 (1.06–2.31) NA 1 Habib et al. [44] Iran
North America 0.49 (0.38–0.61) 0.0 2 Frazier et al. [42] United States
Wainer and Sideman[43] United States
West Pacific 0.63 (0.03–1.75) 96.5 3 Liu and Zuo [83] China
Su et al. [86] China
Wang et al. [88] China
Global (non-regionally weighted) 0.85 (0.51–1.26) 95.9 11 – –
Global (regionally weighted)b 0.96 (0.50–1.42) NA 11 – –
Confirmatory test phenylalanine cutoff value of 600 ± 100 µmol/L  
Europe 1.18 (0.75–1.69) 85.8 4 Lindner et al. [50] Germany
Gerasimova et al. [63] USSR/Russia
Mardesic et al. [65] Yugoslavia
Smon et al. [61] Slovenia
Latin America 0.65 (0.14–1.46) 64.2 2 Botler et al. [66] Brazil
Ramalho et al. [67] Brazil
Middle East/North Africa 0.37 (0.21–0.61) NA 1 Abbaskhanian et al. [69] Iran
West Pacific 0.23 (0.12–0.36) 55.9 3 Boneh et al. [34] Australia
Niu et al. [91] Taiwan
Wang et al. [88] China
Global (non-regionally weighted) 0.66 (0.38–1.02) 94.1 10 – –
Global (regionally weighted)b 0.50 (0.37–0.64) NA 10 – –
Confirmatory test phenylalanine cutoff value of 1200 ± 200 µmol/L  
Europe 0.78 (0.40–1.3) 96.9 7 Cabalska et al. [58] Poland
Gerasimova et al. [63] USSR/Russia
Missiou-Tsagaraki et al. [54] Greece
Ounap et al. [38] Estonia
Smon et al. [61] Slovenia
Walker et al. [64] United Kingdom
Zaffanello et al. [57] Italy
Latin America 0.58 (0.30–0.94) 29.2 2 Cornejo et al. [68] Chile
Ramalho et al. [67] Brazil
Middle East/North Africa 0.36 (0.04–0.94) 91.2 3 Abbaskhanian et al. [69] Iran
Karamifar et al. [70] Iran
Al Hosani et al. [74] United Arab Emirates
North America 0.53 (0.38–0.72) NA 1 Hansen et al. [75] United States
Southeast Asia 0.03 (0.02–0.05) NA 1 Pangkanon et al. [80] Thailand
West Pacific 0.22 (0.03–0.56) 94.6 6 Boneh et al. [34] Australia
Chen et al. [82] China
Niu et al.[91] Taiwan
Su et al. [86] China
Yoon et al. [90] South Korea
Wang (2019) [88] China
Global (non-regionally weighted) 0.47 (0.26–0.74) 98.0 20 – –
Global (regionally weighted)b 0.30 (0.20–0.40) NA 20 – –
Overall analysisc  
Europe 1.14 (0.89–1.41) 92.2 19 Antonozzi et al. [56] Italy
Cabalska et al. [58] Poland
Dluholucký and Knapková [60] Slovakia
Fernández-Iglesias et al. [62] Spain
Gerasimova et al. [63] USSR/Russia
Kocova and Anastasovska [41] Macedonia
Lindner et al. [50] Germany
Loukas et al. [53] Greece
Mardesic et al. [65] Yugoslavia
Mathias and Bickel [51] Germany
Mehes et al. [55] Hungary
Missiou-Tsagaraki et al. [54] Greece
Ounap et al. [38] Estonia
Smon et al. [61] Slovenia
Thalhammer [49] Austria
Vilarinho et al. [59] Portugal
Visakorpi et al. [39] Finland
Walker et al. [64] United Kingdom
Zaffanello et al. [57] Italy
Latin America 0.98 (0.29–2.03) 95.8 3 Botler et al. [66] Brazil
Cornejo et al. [68] Chile
Ramalho et al. [67] Brazil
Middle East/North Africa 1.18 (0.64–1.87) 96.5 7 Abbaskhanian et al. [69] Iran
Alfadhel et al. [72] Saudi Arabia
Al Hosani et al. [74] United Arab Emirates
Habib et al. [44] Iran
Karamifar et al. [70] Iran
Motamedi et al. [71] Iran
Ozalp et al. [73] Turkey
North America 0.81 (0.58–1.07) 82.3 6 Frazier et al. [42] United States
Hansen et al. [75] United States
Kelly and Palombi [76] United States
Maccready and Hussey [28] United States
Wainer and Sideman [43] United States
Zytkovicz et al. [77] United States
Southeast Asia 0.03 (0.02–0.05) NA 1 Pangkanon et al. [80] Thailand
West Pacific 0.68 (0.43–0.98) 94.2 8 Boneh et al. [34] Australia
Lin et al. [29] China
Liu and Zuo [83] China
Niu et al. [91] Taiwan
Su et al. [86] China
Wang et al. [88] China
Yoon et al. [90] South Korea
Zhan et al. [89] China
Global (non-regionally weighted) 0.96 (0.75–1.19) 98.0 44 – –
Global (regionally weighted)b 0.64 (0.53–0.75) NA 44 – –
  1. CI = confidence interval; NA = not available
  2. aIncludes only estimates in which the diagnostic method used for case confirmation was considered strong in the quality assessment tool
  3. bGlobal prevalence was calculated by weighting each region by its relative contribution to the total population
  4. cIncludes estimates for which the diagnostic cutoff value was not reported. When a publication reported birth prevalence by Phe cutoff intervals, the value used was for the sum of the intervals
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172