ArticleClinical and experimental pediatrics2020
Global prevalence of classic phenylketonuria based on Neonatal Screening Program Data: systematic review and meta-analysis.
Article in Clinical and experimental pediatrics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 5 of them syntheses that pooled it.
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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.
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Who cites it
32 citing papers in PubMed, 5 syntheses or guidelines pooled it, 105 citations in OpenAlex.
- The prevalence of phenylketonuria (PKU) and hyperphenylalaninemia (HPA) in Iran: a systematic review and meta-analysis.Orphanet journal of rare diseases · 2026Pooled it
- Intelligence quotient scores among early-treated phenylketonuria patients: results from a systematic literature review.Orphanet journal of rare diseases · 2025Pooled it
- Global prevalence of congenital hypothyroidism among neonates from 1969 to 2020: a systematic review and meta-analysis.European journal of pediatrics · 2023Pooled it
- Birth prevalence of phenylalanine hydroxylase deficiency: a systematic literature review and meta-analysis.Orphanet journal of rare diseases · 2021Pooled it
- Spectrum of PAH gene mutations in 1547 phenylketonuria patients from Iran: a comprehensive systematic review.Metabolic brain disease · 2021Pooled it
- Study protocol and pilot study results for a clinical intervention trial of PKU carriers and non-carriers: the Phe for Me trial.Orphanet journal of rare diseases · 2026Trial
- Nitrogen Balance after the Administration of a Prolonged-Release Protein Substitute for Phenylketonuria as a Single Dose in Healthy Volunteers.Nutrients · 2021Trial
- Phenylketonuria in Saudi Arabia: An Overview of Diagnosis, Genetics, and Therapeutic Strategies.Biology · 2026Review
- Molecular Genetic and Biochemical Characterization of Hyperphenylalaninemia Based on Expanded Neonatal Screening Data from 2023 to 2024 in the Russian Federation.International journal of molecular sciences · 2026Article
- Out-of-pocket expenditures, accessibility, and affordability of low-protein nutrition in rare metabolic disorders in Türkiye.BMC health services research · 2026Article
- A multicenter study on clinico-epidemiological profile of phenylketonuria in Egyptian children.Scientific reports · 2025Article
- An Oxford Nanopore Technologies-Based Sequencing Assay for Molecular Diagnosis of Phenylketonuria and Variant Frequencies in a Turkish Cohort.International journal of genomics · 2025Article
- Implementing and validating newborn screening for inborn errors of metabolism in South India: a 2-year observational study at a tertiary care hospital.BMJ public health · 2024Article
- Health economic impact of patients with phenylketonuria (PKU) in France - A nationwide study of health insurance claims data.Molecular genetics and metabolism reports · 2024Article
- Epidemiology and distribution of 207 rare diseases in China: A systematic literature review.Intractable & rare diseases research · 2024Review
- Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023).International journal of neonatal screening · 2024Review
- Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in theInternational journal of molecular sciences · 2024Article
- Factors Impacting the Reduction in Neophobia Prevalence in Phenylketonuria Patients.Nutrients · 2024Article
- Maximal dietary responsiveness after tetrahydrobiopterin (BH4) in 19 phenylalanine hydroxylase deficiency patients: What super-responders can expect.Molecular genetics and metabolism reports · 2024Article
- Neurovascular retinal impairment in early-treated adults with phenylketonuria.Frontiers in neurology · 2024Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Phenylketonuria is a disease caused by congenital defects in phenylalanine metabolism that leads to irreversible nerve cell damage. However, its detection in the early days of life can reduce its severity. Thus, many countries have started disease screening programs for neonates. The present study aimed to determine the worldwide prevalence of classic phenylketonuria using the data of neonatal screening studies. The PubMed, Web of Sciences, Sciences Direct, ProQuest, and Scopus databases were searched for related articles. Article quality was evaluated using the Joanna Briggs Institute Critical Appraisal Evaluation Checklist. A random effect was used to calculate the pooled prevalence, and a phenylketonuria prevalence per 100,000 neonates was reported. A total of 53 studies with 119,152,905 participants conducted in 1964-2017 were included in this systematic review. The highest prevalence (38.13) was reported in Turkey, while the lowest (0.3) in Thailand. A total of 46 studies were entered into the meta-analysis for pooled prevalence estimation. The overall worldwide prevalence of the disease is 6.002 per 100,000 neonates (95% confidence interval, 5.07-6.93). The metaregression test showed high heterogeneity in the worldwide disease prevalence (I2=99%). Heterogeneity in the worldwide prevalence of phenylketonuria is high, possibly due to differences in factors affecting the disease, such as consanguineous marriages and genetic reserves in different countries, study performance, diagnostic tests, cutoff points, and sample size.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.