ReviewCellular and molecular neurobiology2011
Oxidative stress in phenylketonuria: what is the evidence?
Review in Cellular and molecular neurobiology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02176603 (Observational, Investigator Initiated, Monocentric Study of the Endothelial Dysfunction in Adolescent and Adult Patients With Phenylketonuria Due to Phenylalanine Hydroxylase Deficiency), which is not on this map. Cited by 47 papers, 4 of them syntheses that pooled it.
What it found
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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.
Observational, Investigator Initiated, Monocentric Study of the Endothelial Dysfunction in Adolescent and Adult Patients With Phenylketonuria Due to Phenylalanine Hydroxylase Deficiency
Who cites it
47 citing papers in PubMed, 4 syntheses or guidelines pooled it, 79 citations in OpenAlex.
- Metabolomic profiling in phenylketonuria: a systematic review of human studies.Metabolomics : Official journal of the Metabolomic Society · 2026Pooled it
- Pooled it
- Metabolomics reveals key biomarkers for ischemic stroke: a systematic review of emerging evidence.Frontiers in neurology · 2025Pooled it
- White matter microstructural damage in early treated phenylketonuric patients.Orphanet journal of rare diseases · 2018Pooled it
- Mapping the Severity of Phenylalanine Hydroxylase Deficiency.Journal of inherited metabolic disease · 2026Review
- Untargeted Metabolomic Study for Urinary Characterization of Adult Patients with Phenylketonuria.International journal of molecular sciences · 2025Article
- L-carnitine protects against oxidative damage and neuroinflammation in cerebral cortex of rats submitted to chronic chemically-induced model of hyperphenylalaninemia.Metabolic brain disease · 2025Article
- Management of patients with phenylketonuria (PKU) under enzyme replacement therapy: An Italian model (expert opinion).Molecular genetics and metabolism reports · 2024Review
- Low bone mineralization in phenylketonuria may be due to undiagnosed metabolic acidosis.Molecular genetics and metabolism reports · 2023Article
- Characterization of Choline Nutriture among Adults and Children with Phenylketonuria.Nutrients · 2022Article
- The Regulation and Characterization of Mitochondrial-Derived Methylmalonic Acid in Mitochondrial Dysfunction and Oxidative Stress: From Basic Research to Clinical Practice.Oxidative medicine and cellular longevity · 2022Review
- Untreated PKU patients without intellectual disability:Molecular genetics and metabolism reports · 2021Article
- L-carnitine protects DNA oxidative damage induced by phenylalanine and its keto acid derivatives in neural cells: a possible pathomechanism and adjuvant therapy for brain injury in phenylketonuria.Metabolic brain disease · 2021Article
- Insights from Animal Models on the Pathophysiology of Hyperphenylalaninemia: Role of Mitochondrial Dysfunction, Oxidative Stress and Inflammation.Molecular neurobiology · 2021Review
- Oxidative stress in phenylketonuria-evidence from human studies and animal models, and possible implications for redox signaling.Metabolic brain disease · 2021Review
- Assessment of serum phenylalanine and tyrosine isomers in patients with ST-segment elevation vs non-ST-segment elevation myocardial infarction.Journal of clinical laboratory analysis · 2021Article
- The effects of early-treated phenylketonuria on volumetric measures of the cerebellum.Molecular genetics and metabolism reports · 2020Article
- Creatine plus pyruvate supplementation prevents oxidative stress and phosphotransfer network disturbances in the brain of rats subjected to chemically-induced phenylketonuria.Metabolic brain disease · 2019Article
- Creatine nanoliposome reverts the HPA-induced damage in complex II-III activity of the rats' cerebral cortex.Molecular biology reports · 2019Article
- The cardiovascular phenotype of adult patients with phenylketonuria.Orphanet journal of rare diseases · 2019Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Phenylketonuria (PKU) is an inborn error of amino acid metabolism caused by severe deficiency of phenylalanine hydroxylase activity, leading to the accumulation of phenylalanine and its metabolites in blood and tissues of affected patients. Phenylketonuric patients present as the major clinical feature mental retardation, whose pathomechanisms are poorly understood. In recent years, mounting evidence has emerged indicating that oxidative stress is possibly involved in the pathology of PKU. This article addresses some of the recent developments obtained from animal studies and from phenylketonuric patients indicating that oxidative stress may represent an important element in the pathophysiology of PKU. Several studies have shown that enzymatic and non-enzymatic antioxidant defenses are decreased in plasma and erythrocytes of PKU patients, which may be due to an increased free radical generation or secondary to the deprivation of micronutrients which are essential for these defenses. Indeed, markers of lipid, protein, and DNA oxidative damage have been reported in PKU patients, implying that reactive species production is increased in this disorder. A considerable set of data from in vitro and in vivo animal studies have shown that phenylalanine and/or its metabolites elicit reactive species in brain rodent. These findings point to a disruption of pro-oxidant/antioxidant balance in PKU. Considering that the brain is particularly vulnerable to oxidative attack, it is presumed that the administration of appropriate antioxidants as adjuvant agents, in addition to the usual treatment based on restricted diets or supplementation of tetrahydrobiopterin, may represent another step in the prevention of the neurological damage in PKU.
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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.