ReviewPediatric research2019
Newly validated biomarkers of brain damage may shed light into the role of oxidative stress in the pathophysiology of neurocognitive impairment in dietary restricted phenylketonuria patients.
Review in Pediatric research, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Metabolomic profiling in phenylketonuria: a systematic review of human studies.Metabolomics : Official journal of the Metabolomic Society · 2026Pooled it
- Dried blood spot compared to plasma measurements of blood-based biomarkers of brain injury in neonatal encephalopathy.Pediatric research · 2019Trial
- Children's health: insights from space medicine on metabolic health.NPJ microgravity · 2025Review
- Navigating social determinants of health barriers in the management of phenylketonuria.Molecular genetics and metabolism reports · 2024Article
- Systems Biology and Inborn Error of Metabolism: Analytical Strategy in Investigating Different Biochemical/Genetic Parameters.Methods in molecular biology (Clifton, N.J.) · 2024Article
- In Silico Structural Protein Evaluation of the Phenylalanine Hydroxylase p.(Tyr77His) Variant Associated with Benign Hyperphenylalaninemia as Identified through Mexican Newborn Screening.Children (Basel, Switzerland) · 2023Article
- Effect Modification between Genes and Environment and Parkinson's Disease Risk.Annals of neurology · 2022Review
- Phenylketonuria oxidative stress and energy dysregulation: Emerging pathophysiological elements provide interventional opportunity.Molecular genetics and metabolism · 2022Review
- Plasma metabolomic profile changes in females with phenylketonuria following a camp intervention.The American journal of clinical nutrition · 2022Article
- Urine Phenylacetylglutamine Determination in Patients with Hyperphenylalaninemia.Journal of clinical medicine · 2021Article
- The rs113883650 variant ofMolecular genetics and metabolism reports · 2021Article
- Oxidative stress in phenylketonuria-evidence from human studies and animal models, and possible implications for redox signaling.Metabolic brain disease · 2021Review
- The related mechanism of complete Freund's adjuvant-induced chronic inflammation pain based on metabolomics analysis.Biomedical chromatography : BMC · 2021Article
- CRISPR/Cas9 generated knockout mice lacking phenylalanine hydroxylase protein as a novel preclinical model for human phenylketonuria.Scientific reports · 2021Article
- Engineering Organoids forFrontiers in molecular neuroscience · 2021Review
- Similarities and differences in key diagnosis, treatment, and management approaches for PAH deficiency in the United States and Europe.Orphanet journal of rare diseases · 2020Review
- The first study of successful pregnancies in Chinese patients with Phenylketonuria.BMC pregnancy and childbirth · 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
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Despite a strict dietary control, patient with hyperphenylalaninemia or phenylketonuria may show cognitive and/or behavioral disorders. These comorbid deficits are of great concern to patients, families, and health organizations. However, biomarkers capable of detecting initial stages of neurological damage are not commonly employed. The pathogenesis of phenylketonuria is complex in nature. Increasingly, the role of oxidative stress has gained acceptance and biomarkers reflecting oxidative damage to the brain and easily accessible in peripheral biofluids have been validated using mass spectrometry techniques. In the present review, the role of oxidative stress in the pathogenesis of phenylketonuria and hyperphenylalaninemia has been updated. Moreover, we report on newly validated brain-specific lipid peroxidation biomarkers and inform on their relevance in the detection and monitoring of neurological damage in phenylketonuric patients. In preliminary studies, a correlation between lipid peroxidation biomarkers and neurological dysfunction in patients with PKU was reported. However, there is a need of adequately powered trials to confirm the validity of these biomarkers for early detection of brain damage, initiation of treatment, and reliably monitor evolving disease both in phenylketonuria and hyperphenylalaninemia.
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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.