Epidemiology of Hyperphenylalaninemia: A Systematic Review and Meta-Analysis

Puntos clave

• Hyperphenylalaninemia prevalence rates correlate with consanguinity patterns in various regions, especially MENA.
• The meta-analysis applied a rare-disease-specific sample size threshold to validate estimates.
• Low prevalence rates in Southeast Asia contrast sharply with higher burdens in the MENA region.
• Highlighting these prevalence patterns suggests the need for targeted interventions in affected areas.

Resumen