ArticleEuropean journal of pediatrics2015
Management of adult patients with phenylketonuria: survey results from 24 countries.
Article in European journal of pediatrics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Discontinuation of follow-up care for young people with complex chronic conditions: conceptual definitions and operational components.BMC health services research · 2021Pooled it
- Our lives with PKU: German patient voices - "Nothing about us without us".Molecular genetics and metabolism reports · 2025Article
- Phenylketonuria from the perspectives of patients in Türkiye.Orphanet journal of rare diseases · 2024Article
- [Evaluation and optimization of newborn screening by structured long-term follow-up-using the example of inherited metabolic diseases].Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz · 2023Review
- Adult PKU Clinics in the UK-Users' Experiences and Perspectives.Nutrients · 2023Article
- A method for phenylalanine self-monitoring using phenylalanine ammonia-lyase and a pre-existing portable ammonia detection system.Molecular genetics and metabolism reports · 2023Article
- Preventing maternal phenylketonuria (PKU) syndrome: important factors to achieve good metabolic control throughout pregnancy.Orphanet journal of rare diseases · 2021Article
- Development of a practical dietitian road map for the nutritional management of phenylketonuria (PKU) patients on pegvaliase.Molecular genetics and metabolism reports · 2021Article
- Implementing a Transition Program from Paediatric to Adult Services in Phenylketonuria: Results After Two Years of Follow-Up with an Adult Team.Nutrients · 2021Observational
- The PKU & ME study: A qualitative exploration, through co-creative sessions, of attitudes and experience of the disease among adults with phenylketonuria in Italy.Molecular genetics and metabolism reports · 2020Article
- The cardiovascular phenotype of adult patients with phenylketonuria.Orphanet journal of rare diseases · 2019Article
- Article
- Dietary patterns, cost and compliance with low-protein diet of phenylketonuria and other inherited metabolic diseases.European journal of clinical nutrition · 2018Observational
- The complete European guidelines on phenylketonuria: diagnosis and treatment.Orphanet journal of rare diseases · 2017Review
- The Predictive Value of Genetic Analyses in the Diagnosis of Tetrahydrobiopterin (BH4)-Responsiveness in Chinese Phenylalanine Hydroxylase Deficiency Patients.Scientific reports · 2017Article
- Development of the US English version of the phenylketonuria - quality of life (PKU-QOL) questionnaire.Health and quality of life outcomes · 2017Article
- Multicompartment analysis of protein-restricted phenylketonuric mice reveals amino acid imbalances in brain.Journal of inherited metabolic disease · 2017Article
- "I Feel Lucky" - Gratitude Among Young Adults with Phenylketonuria (PKU).Journal of genetic counseling · 2016Article
- Ten years of specialized adult care for phenylketonuria - a single-centre experience.Orphanet journal of rare diseases · 2016Article
- Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results.European journal of pediatrics · 2016Article
Corrections and comments
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Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
unlabelledPhenylketonuria (PKU) is no longer considered merely a pediatric concern; current guidelines recommend life-long treatment. However, information on the adult PKU patient population is scarce. A survey was initiated on behalf of the European PKU Group (EPG) that focused specifically on early-treated adult patients diagnosed by neonatal screening. The online survey was sent via email to 204 healthcare professionals (HCPs) in 33 countries. Eighty-one HCPs from 24 countries responded. The main findings were that the majority of adult patients with PKU in active follow-up are under 30 years of age and are managed in centers that also treat children. Seventy-eight percent of adult PKU patients in follow-up receive treatment, mainly by diet (71 %), with BH4 treatment rarely used in adulthood. Only 26 % of responding HCPs perform routine neurocognitive testing in all their adult patients. There was little consensus regarding target blood phenylalanine (Phe) concentrations, although the majority of respondents reported that their patients achieved blood Phe concentrations below 1200 μmol/l.
conclusionThis survey highlights the need for blood Phe concentration target recommendations and consensus guidelines, more research into adult PKU patient management, and the need to identify those patients lost to follow-up to ensure PKU is managed for life.
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