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

Foreman, Pamela K.; Margulis, Andrea V.; Alexander, Kimberly; Shediac, Renee; Calingaert, Brian; Harding, Abenah; Pladevall-Vila, Manel; Landis, Sarah

doi:10.1186/s13023-021-01874-6

Orphanet Journal of Rare Diseases

Table 4 Meta-analysis^a 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
North America	0.49 (0.38–0.61)	0.0	2	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
Latin America	0.65 (0.14–1.46)	64.2	2	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
Latin America	0.58 (0.30–0.94)	29.2	2	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 analysis^c
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	–	–

CI = confidence interval; NA = not available
^aIncludes only estimates in which the diagnostic method used for case confirmation was considered strong in the quality assessment tool
^bGlobal prevalence was calculated by weighting each region by its relative contribution to the total population
^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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ISSN: 1750-1172

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