Epidemiology of Hyperphenylalaninemia: A Systematic Review and Meta-Analysis.

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

SUBMITTER: Doczi TI 

PROVIDER: S-EPMC12852608 | biostudies-literature | 2026 Jan-Dec

REPOSITORIES: biostudies-literature