SynthesisJournal of neurology2023
Characterisation and differential diagnosis of neurological complications in adults with phenylketonuria: literature review and expert opinion.
Synthesis in Journal of neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 12 citations in OpenAlex.
- 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
- Treatment goals for adults with early treated PKU should be determined by evidence-based shared decision making between patients and their medical team.Orphanet journal of rare diseases · 2026Article
- Review
- Nutritional knowledge of the phenylketonuria diet among healthcare providers in Saudi Arabia.Saudi medical journal · 2025Article
- Poor adherence during adolescence is a risk factor for becoming lost-to-follow-up in patients with phenylketonuria.Molecular genetics and metabolism reports · 2024Article
- Intake Modalities of Amino Acid Supplements: A Real-World Data Collection from Phenylketonuria Patients.Nutrients · 2024Article
- Adult PKU Clinics in the UK-Users' Experiences and Perspectives.Nutrients · 2023Article
Corrections and comments
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Authors and funding
7 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivePhenylketonuria (PKU) is a rare inherited metabolic disorder characterised by elevated phenylalanine (Phe) concentrations that can exert neurotoxic effects if untreated or upon treatment discontinuation. This systematic review supported by expert opinion aims to raise awareness among the neurological community on neurological complications experienced by adults with PKU (AwPKU).
methodsThe PubMed database was searched for articles on neurological signs and symptoms in AwPKU published before March 2022. In addition, two virtual advisory boards were held with a panel of seven neurologists and two metabolic physicians from Germany and Austria. Findings are supported by three illustrative patient cases.
resultsThirty-nine articles were included. Despite early diagnosis and treatment, neurological signs and symptoms (e.g. ataxia, brisk tendon reflexes, tremor, visual impairment) can emerge in adulthood, especially if treatment has been discontinued after childhood. In PKU, late-onset neurological deficits often co-occur with cognitive impairment and psychiatric symptoms, all of which can be completely or partially reversed through resumption of treatment.
conclusionIdeally, neurologists should be part of the PKU multidisciplinary team, either to bring lost to follow-up patients back to clinic or to manage symptoms in referred patients, considering that symptoms are often reversible upon regaining metabolic control. The current findings have been combined in a leaflet that will be disseminated among neurologists in Germany and Austria to create awareness.
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