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Systematic review and meta-analysis

Genetics and Metabolism

Global prevalence of classic phenylketonuria based on Neonatal Screening Program Data: systematic review and meta-analysis

Hamid Reza Shoraka, Ali Akbar Haghdoost, Mohammad Reza Baneshi, Zohre Bagherinezhad, Farzaneh Zolala

Clin Exp Pediatr. 2020;63(2):34-43. Published online February 6, 2020

Web of Science 42 Crossref 44

Question: What is the global prevalence of classic phenylketonuria based on Neonatal Screening Program Data?
Finding: The overall worldwide prevalence of the disease is 6.002 per 100,000 neonates. The highest prevalence (38.13) was reported in Turkey, while the lowest (0.3) in Thailand.
Meaning: This difference in the prevalence may be due to differences in the number of consanguineous marriages among the different regions, phenylalanine cutoff points, and sample sizes.

DOI: https://doi.org/10.3345/kjp.2019.00465

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