SynthesisBMC pediatrics2020
Phenylketonuria screening in Iranian newborns: a systematic review and meta-analysis.
Synthesis in BMC pediatrics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 3 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
15 citing papers in PubMed, 3 syntheses or guidelines pooled it, 24 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
- A Comprehensive Study of Disease-Causing Variants in PAH, QDPR, PTS, and PCD Genes in Iranian Patients with Hyperphenylalaninemia: A Systematic Review.Human heredity · 2023Pooled it
- Spectrum of PAH gene mutations in 1547 phenylketonuria patients from Iran: a comprehensive systematic review.Metabolic brain disease · 2021Pooled it
- Improving phenylalanine and micronutrients status of children with phenylketonuria: a pilot randomized study.Orphanet journal of rare diseases · 2021Trial
- A Comprehensive Meta-Analytical Investigation into the Incidence of Neonatal Amino Acid Metabolic Disorders Across China.International journal of neonatal screening · 2026Review
- Two Years of Expanded Newborn Screening in Russia: High-Throughput Detection of Inherited Metabolic Disorders by Tandem Mass Spectrometry with Next-Generation Sequencing Confirmation.International journal of neonatal screening · 2026Article
- Epidemiology of inherited metabolic disorders in newborn screening: insights from three years of experience in Southern Iran.Orphanet journal of rare diseases · 2025Article
- Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023).International journal of neonatal screening · 2024Review
- Mutation Analysis of PAH Gene in Phenylketonuria Patients from the North of Iran: Identification of Three Novel Pathogenic Variants.International journal of preventive medicine · 2024Article
- A Rare Combination of Compound Heterozygous Mutations in theAdvanced biomedical research · 2024Article
- Life story of Iranian parents of a child with phenylketonuria: a qualitative study.Journal of community genetics · 2023Article
- Evaluation of Attention-deficit/Hyperactivity Disorder in Referred Patients to the PKU Clinic in Yazd, Iran.Iranian journal of child neurology · 2023Article
- Genetic evaluation of hyperphenylalaninemia patients with tetrahydrobiopterin deficiency in Iranian population: Identification of four novel disease-causing variants.Molecular genetics & genomic medicine · 2022Article
- The analysis of using a panel of the most common variants in theMolecular genetics and metabolism reports · 2022Article
- Effectiveness of the Preventive Intervention of Chromosomal Disorders of Iran's Community Genetics Program: Application of Bayesian Network.Medical journal of the Islamic Republic of Iran · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPhenylketonuria (PKU), which is characterized by a deficiency of phenylalanine hydroxylase activity, is an autosomal recessive disorder of phenylalanine (Phe) metabolism. Newborn screening is the main population-based public health screening program that allows successful identification and treatment of PKU with low-Phe diet. The aim of this study was to evaluate the epidemiology of PKU screening in Iranian newborns.
methodsThe present study was designed based on MOOSE protocol and reporting was done in accordance with the PRISMA guidelines. The protocol of this systematic review was published in PROSPERO before it was performed (CRD42020162626). A comprehensive search was done in 10/10/2019 to find related literature on international online databases Web of Science, Scopus, EMBASE, Science Direct, PubMed/Medline, EBSCO, CINAHL, Cochrane Library, national online databases and the Google Scholar search engine. Heterogeneity among studies was assessed by I
resultFinally, 18 studies with 3,339,327 Iranian neonates were included. The prevalence of suspected hyperphenylalaninemia (HPA) was estimated to be 45.6/100,000 (95% CI: 23.9-87.1). The prevalence of suspected HPA in girls and boys infants in Iran was estimated to be 38.0/100,000 (95% CI: 15.1-95.5) and 43.3/100,000 (95% CI: 16.2-116.2), respectively. The prevalence of PKU was estimated to be 16.5/100,000 (95% CI: 12.9-21.2). The prevalence of PKU in girls and boys infants was estimated to be 13.3/100,000 (95% CI: 7.5-15.8) and 10.9/100,000 (95% CI: 7.5-15.8), respectively. The prevalence of mild to moderate HPA was estimated 9.7/100,000 (95% CI: 5.1-18.4) and the prevalence of classical PKU was estimated 4.4/100,000 (95% CI: 2.5-7.8). Sensitivity analysis for all meta-analysis with the omission of one study showed that overall estimation is still robust.
conclusionThe results of this meta-analysis showed that PKU is prevalent in Iranian neonates. It should be considered that for PKU there is a highly effective dietary treatment which can prevent the clinical symptoms of PKU if initiated early after detection by newborn screening.
Indexed as
Identifiers
What OpenQuestion holds
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.