ReviewAging and disease2015
Phenylketonuria Pathophysiology: on the Role of Metabolic Alterations.
Review in Aging and disease, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers, 1 of them a synthesis that pooled it.
What it found
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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
53 citing papers in PubMed, 1 synthesis or guideline pooled it, 104 citations in OpenAlex.
- Invisible but central: family caregiving as the hidden infrastructure of pediatric PKU-an integrative review.Systematic reviews · 2026Pooled it
- Phenylalanine primes renal tubular redox vulnerability and calcium oxalate crystal retention through a PPARδ-CPT1A fatty-acid oxidation axis.Redox biology · 2026Article
- Blood Phenylalanine Control in Paediatric and Adult Centres in the UK: Data from 2012-2018.Nutrients · 2026Article
- Pushing the Boundaries of Biomarker Discovery in Phenylketonuria: Metabolomic Profiling Reveals Novel Biomarkers and Their Associations with Phenylalanine.Molecules (Basel, Switzerland) · 2026Article
- Longitudinal Whole-Exome Sequencing of Cell-Free DNA Reveals Molecular Evolution and Heterogeneous Clinical Outcomes in PD-L1 Stratified Advanced NSCLC Adenocarcinoma Patients Treated with Atezolizumab.International journal of molecular sciences · 2026Article
- Breaking Barriers: Stakeholder Insights into Physical Activity, Exercise, and Dietary Behaviours Among Individuals with Phenylketonuria (PKU).Healthcare (Basel, Switzerland) · 2026Article
- Phenylalanine homeostasis in metabolic disorders: epidemiological trends, pathophysiological mechanisms, and clinical treatment.Frontiers in endocrinology · 2026Review
- Sapropterin Dihydrochloride Responsiveness in Phenylketonuria: A Case Series Exploring Gaps in Comprehensive Patient Monitoring.Nutrients · 2025Article
- Spectrum ofBiomedical reports · 2025Article
- Metabolic signatures and a diagnostic model for citrin deficiency based on urinary organic acids.Clinical and translational medicine · 2025Article
- Endoplasmic reticulum stress pathways and cellular death mechanisms in patients with phenylketonuria.Molecular biology reports · 2025Article
- Current state of the treatment landscape of phenylketonuria.Orphanet journal of rare diseases · 2025Review
- The association of plasma level of phenylalanine with inflammatory markers, insulin resistance, and atherosclerotic indexes in patients with phenylketonuria.Journal of diabetes and metabolic disorders · 2025Article
- Large Variations in Phenylalanine Concentrations Associate Adverse Cardiac Remodelling in Adult Patients With Phenylketonuria-A Long-Term CMR Study.Journal of cachexia, sarcopenia and muscle · 2025Article
- Effect ofFrontiers in physiology · 2025Article
- Impact of gut probiotic metabolites on phenylketonuria.Frontiers in cellular and infection microbiology · 2025Review
- Engineered Probiotics for the Management of Congenital Metabolic Diseases: A Systematic Review.Preventive nutrition and food science · 2024Review
- Adherence to PKU guidelines among patients with phenylketonuria: A cross-sectional national multicenter survey-based study in Argentina, Brazil, and Mexico.Molecular genetics and metabolism reports · 2024Article
- Fully Integrated Point-of-Care Platform for the Self-Monitoring of Phenylalanine in Finger-Prick Blood.ACS sensors · 2023Article
- Identification of candidate metabolite biomarkers for metabolic syndrome and its five components in population-based human cohorts.Cardiovascular diabetology · 2023Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Phenylketonuria (PKU) is an inborn error of phenylalanine (Phe) metabolism caused by the deficiency of phenylalanine hydroxylase. This deficiency leads to the accumulation of Phe and its metabolites in tissues and body fluids of PKU patients. The main signs and symptoms are found in the brain but the pathophysiology of this disease is not well understood. In this context, metabolic alterations such as oxidative stress, mitochondrial dysfunction, and impaired protein and neurotransmitters synthesis have been described both in animal models and patients. This review aims to discuss the main metabolic disturbances reported in PKU and relate them with the pathophysiology of this disease. The elucidation of the pathophysiology of brain damage found in PKU patients will help to develop better therapeutic strategies to improve quality of life of patients affected by this condition.
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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.