ArticleThe Clinical biochemist. Reviews2008
Phenylketonuria: an inborn error of phenylalanine metabolism.
Article in The Clinical biochemist. Reviews, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06792240 (EVALUATION OF IRON INTAKE UPON BLASMA - PHENYLALANINE LEVELS IN PHENYLKETONURIA PATIENTS IN 3 YEARS LONGITUDINAL RANDOMIZED STUDY), which is not on this map. Cited by 156 papers, 9 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.
Evaluation of iron intake upon blasma - phenylalanine levels in phenylketonuria patients in 3 years longitudinal randomized study
Who cites it
156 citing papers in PubMed, 9 syntheses or guidelines pooled it, 360 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
- Maternal Phenylketonuria and Offspring Outcome: A Retrospective Study with a Systematic Review of the Literature.Nutrients · 2025Pooled it
- Meta-analysis of bone mineral density in adults with phenylketonuria.Orphanet journal of rare diseases · 2024Pooled it
- Systematic literature review of the somatic comorbidities experienced by adults with phenylketonuria.Orphanet journal of rare diseases · 2024Pooled it
- Burden of phenylketonuria in Latin American patients: a systematic review and meta-analysis of observational studies.Orphanet journal of rare diseases · 2022Pooled it
- Birth prevalence of phenylalanine hydroxylase deficiency: a systematic literature review and meta-analysis.Orphanet journal of rare diseases · 2021Pooled it
- The Prevalence of Phenylketonuria in Arab Countries, Turkey, and Iran: A Systematic Review.BioMed research international · 2018Pooled it
- Sapropterin dihydrochloride for phenylketonuria.The Cochrane database of systematic reviews · 2015Pooled it
- Congenital iRHOM2 deficiency causes ADAM17 dysfunction and environmentally directed immunodysregulatory disease.Nature immunology · 2022Trial
- Nutritional Status and Physical Activity Levels in Adult Patients with Phenylketonuria.Nutrients · 2026Article
- Development of a face-validated conceptual model structure for economic evaluation in phenylketonuria, through expert elicitation.Orphanet journal of rare diseases · 2026Article
- Out-of-pocket expenditures, accessibility, and affordability of low-protein nutrition in rare metabolic disorders in Türkiye.BMC health services research · 2026Article
- A Systematic Bioinformatic Analysis of the miRNA Pathway in Inborn Errors of Amino Acid Metabolism Disorders.Molecular syndromology · 2026Article
- Mass Spectrometry-Based Metabolomics in Pediatric Health and Disease.Metabolites · 2026Review
- L-Phenylalanine is a metabolic checkpoint of human Th2 cells.Cell reports. Medicine · 2025Article
- mRNA Isoforms and Variants in Health and Disease.International journal of molecular sciences · 2025Review
- Blood phenylalanine lowering partially reverses white matter changes in a mouse model of phenylketonuria.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Article
- Nutritional profiling of foods for Phenylketonuria.Scientific reports · 2025Article
- Toxicity spectrum of pegvaliase: A pharmacovigilance analysis using the FAERS database.Orphanet journal of rare diseases · 2025Article
96 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine (Phe) metabolism resulting from deficiency of phenylalanine hydroxylase (PAH). Most forms of PKU and hyperphenylalaninaemia (HPA) are caused by mutations in the PAH gene on chromosome 12q23.2. Untreated PKU is associated with an abnormal phenotype which includes growth failure, poor skin pigmentation, microcephaly, seizures, global developmental delay and severe intellectual impairment. However, since the introduction of newborn screening programs and with early dietary intervention, children born with PKU can now expect to lead relatively normal lives. A better understanding of the biochemistry, genetics and molecular basis of PKU, as well as the need for improved treatment options, has led to the development of new therapeutic strategies.
Identifiers
18566668PMC2423317W1541863201What 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.