ReviewJournal of neurology2020
Neurological manifestations in adults with phenylketonuria: new cases and review of the literature.
Review in Journal of neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 46 citations in OpenAlex.
- Characterisation and differential diagnosis of neurological complications in adults with phenylketonuria: literature review and expert opinion.Journal of neurology · 2023Pooled it
- Characterization of Adult Patients With Neurometabolic Disorders: A Cross-Sectional Study at a Tertiary Neurology Center in Sweden.JIMD reports · 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
- Adult-Onset Ataxia and Tremor as a Manifestation of Undiagnosed Phenylketonuria.Movement disorders clinical practice · 2026Article
- Navigating Adolescence with PKU: Adherence, Metabolic Control, and Wellbeing in a UK Clinical Centre.Nutrients · 2025Article
- Current state of the treatment landscape of phenylketonuria.Orphanet journal of rare diseases · 2025Review
- Neurological manifestations in an adult with phenylketonuria.Archives of medical science : AMS · 2025Article
- Cognition and wellbeing in middle-aged early treated people with phenylketonuria: Preliminary results and methodological lessons.Molecular genetics and metabolism reports · 2024Article
- Nutrient Status and Intakes of Adults with Phenylketonuria.Nutrients · 2024Article
- Blood Phenylalanine Levels in Patients with Phenylketonuria from Europe between 2012 and 2018: Is It a Changing Landscape?Nutrients · 2024Article
- Comparison of Cost Analysis in Patients with Tetrahydrobiopterin-Responsive and Non-Responsive Phenylketonuria in Turkey.Nutrients · 2024Article
- Preparing Enteral Formulas for Adult Patients with Phenylketonuria: A Minor Necessity but Major Challenge-A Case Report.Journal of clinical medicine · 2023Article
- Adult PKU Clinics in the UK-Users' Experiences and Perspectives.Nutrients · 2023Article
- Phenylketonuria: A Scoring System for Brain Magnetic Resonance Imaging.Turkish archives of pediatrics · 2023Article
- Neurological and imaging phenotypes of adults with untreated phenylketonuria: new cases and literature review.Journal of neurology · 2023Review
- A method for phenylalanine self-monitoring using phenylalanine ammonia-lyase and a pre-existing portable ammonia detection system.Molecular genetics and metabolism reports · 2023Article
- Mechanisms underlying phenotypic variation in neurogenetic disorders.Nature reviews. Neurology · 2023Review
- Expert opinion of an Italian working group on the assessment of cognitive, psychological, and neurological outcomes in pediatric, adolescent, and adult patients with phenylketonuria.Orphanet journal of rare diseases · 2022Article
- Mild hyperphenylalaninemia (hpa) presenting as orthostatic tremor: a case report.BMC neurology · 2022Article
- Review
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivePhenylketonuria (PKU) is a rare autosomal recessive disease characterised by high plasma phenylalanine levels inducing, if untreated, serious neurological manifestations in children but also, rarely, in adults who stopped their diet. The objective of the study was to describe the neurological manifestations observed in adults with PKU.
methodsWe analysed cases reported in French reference centres for inborn errors of metabolism and cases already reported in the literature.
resultsWe report 8 new cases of neurological manifestations and 22 cases in the literature, which occurred in adult PKU patients, associated with chronic or rapid increase of phenylalanine levels, mostly when strict low-phenylalanine diet was stopped early in life. Neurological symptoms consisted in cerebellar ataxia, tremor, brisk reflexes, visual loss, sensory manifestations, and/or headaches. Visual loss was more frequent in the new cases (4/8) of the present series than in the literature (4/22). These neurological complications were associated with leucopathy on brain magnetic resonance imaging (27/29). The start of a low-phenylalanine diet improved or fully reversed neurological manifestations, even in patients with late diagnosis during adulthood.
conclusionNeurological manifestations can complicate PKU in adult patients with elevated phenylalanine levels, after long or short period of diet discontinuation. Neurologists should be aware of this diagnosis, and measure phenylalaninemia in case of neurological symptoms associated with non-specific leucopathy on brain MRI. PKU patients should be systematically encouraged to continue their diet and their medical follow-up to avoid neurological complications.
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