The prevalence of phenylketonuria (PKU) and hyperphenylalaninemia (HPA) in Iran: a systematic review and meta-analysis

It seems that the screening program in Iran was effective and detected almost all PKU cases in the first few days of their lives. This information showed that the PKU prevalence is relatively higher than in most parts of the world, thus their prevalence should be controlled.

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Publication Details

Journal
Orphanet Journal of Rare Diseases
Published
2026-02-25
DOI
https://doi.org/10.1186/s13023-026-04255-z
Primary Topic
Metabolism and Genetic Disorders
Type
article
Field-Weighted Citation Impact
0.00
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article

The prevalence of phenylketonuria (PKU) and hyperphenylalaninemia (HPA) in Iran: a systematic review and meta-analysis

Abdolreza Norouzy, Peyman Eshraghi, Saeedeh Talebi, Davoud Amirkashani et al.
Orphanet Journal of Rare Diseases
Metabolism and Genetic Disorders
article

The prevalence of phenylketonuria (PKU) and hyperphenylalaninemia (HPA) in Iran: a systematic review and meta-analysis

Abdolreza Norouzy, Peyman Eshraghi, Saeedeh Talebi, Davoud Amirkashani, Maryam Mahmoudi, Mohsen Nematy, Saeid Talebi, Samira Faraji, Tayebeh Najafimoghadam, Golnaz Ranjbar, AliAkbar Haghdoost, Lesani Lesani Gouya, Mohammad Hasan Abolhasani, Mahdi Shadnoush, Seyed Mohammad Tabatabaee Jabali
article en

Abstract

It seems that the screening program in Iran was effective and detected almost all PKU cases in the first few days of their lives. This information showed that the PKU prevalence is relatively higher than in most parts of the world, thus their prevalence should be controlled.

Orphanet Journal of Rare Diseases
University of Hertfordshire (GB), Iran University of Medical Sciences (IR), Mashhad University of Medical Sciences (IR), Kerman University of Medical Sciences (IR), National Nutrition and Food Technology Research Institute (IR), Sina Hospital (IR), Shahid Beheshti University of Medical Sciences (IR), Tehran University of Medical Sciences (IR)
Openalex Percentile: Top 43%
Metabolism and Genetic Disorders
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