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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