ReviewSage open pediatrics
Epidemiology of Hyperphenylalaninemia: A Systematic Review and Meta-Analysis.
Review in Sage open pediatrics. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background/objectives: This systematic review and meta-analysis quantified global and regional birth prevalence of hyperphenylalaninemia (HPA) caused by phenylalanine (Phe) hydroxylase deficiency. Data sources and methods: Searches of PubMed, Embase, the Cochrane Library and PROSPERO yielded 4297 records; 210 met inclusion and 97 contributed to a rasyndom-effects model stratified by blood Phe cut-off values. Results: The regionally weighted global prevalence of HPA was 0.84 per 10 000 live births (95% CI 0.44-1.24), ranging from 0.60 in South America to 1.30 in the Middle East and North Africa (MENA). Classic PKU (Phe: 1200 ± 200 μmol/l) occurred in 0.29 per 10 000 births overall, reaching 0.58 (0.34-0.87) in North America and 0.67 (0.28-1.23) in Europe. Conclusion: Prevalence patterns mirrored consanguinity rates, explaining the high burden in MENA and the low figures in Southeast Asia. The meta-analysis, applying rare-disease-specific minimum sample-size threshold, confirmed HPA, incl. PKU as a rare disease and validated prevalence estimates.
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Registered trials
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