Trial reportJournal of inherited metabolic disease2002
Phenylketonuria in adulthood: a collaborative study.
Trial report in Journal of inherited metabolic disease, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 75 papers, 8 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
75 citing papers in PubMed, 8 syntheses or guidelines pooled it, 214 citations in OpenAlex.
- Systematic literature review of the somatic comorbidities experienced by adults with phenylketonuria.Orphanet journal of rare diseases · 2024Pooled it
- Characterisation and differential diagnosis of neurological complications in adults with phenylketonuria: literature review and expert opinion.Journal of neurology · 2023Pooled it
- Dietary interventions for phenylketonuria.The Cochrane database of systematic reviews · 2020Pooled it
- Sapropterin dihydrochloride for phenylketonuria.The Cochrane database of systematic reviews · 2015Pooled it
- Estimating the probability of IQ impairment from blood phenylalanine for phenylketonuria patients: a hierarchical meta-analysis.Journal of inherited metabolic disease · 2013Pooled it
- Dietary interventions for phenylketonuria.The Cochrane database of systematic reviews · 2010Pooled it
- Meta-analysis of neuropsychological symptoms of adolescents and adults with PKU.Neuropsychology review · 2007Pooled it
- Systematic Review and Meta-Analysis of Neuropsychiatric Symptoms and Executive Functioning in Adults With Phenylketonuria.Developmental neuropsychologyPooled it
- Long-chain polyunsaturated fatty acid supplementation in the first year of life affects brain function, structure, and metabolism at age nine years.Developmental psychobiology · 2019Trial
- Association of immune response with efficacy and safety outcomes in adults with phenylketonuria administered pegvaliase in phase 3 clinical trials.EBioMedicine · 2018Trial
- Breakfast with glycomacropeptide compared with amino acids suppresses plasma ghrelin levels in individuals with phenylketonuria.Molecular genetics and metabolism · 2010Trial
- Introduction of sapropterin dihydrochloride as standard of care in patients with phenylketonuria.Molecular genetics and metabolism · 2010Trial
- Reassessment of phenylalanine tolerance in adults with phenylketonuria is needed as body mass changes.Molecular genetics and metabolism · 2009Trial
- Improved nutritional management of phenylketonuria by using a diet containing glycomacropeptide compared with amino acids.The American journal of clinical nutrition · 2009Trial
- Long-term comparative effectiveness of pegvaliase versus standard of care comparators in adults with phenylketonuria.Molecular genetics and metabolismTrial
- Disease Burden and Pharmacological Treatment Patterns in Children and Adults With Phenylketonuria: A Real-World Matched Cohort Study.Journal of inherited metabolic disease · 2026Article
- Nutritional and Therapeutic Strategies in Paediatric Phenylketonuria: A Narrative Literature Review.Nutrients · 2026Review
- Protein requirements in adults with phenylketonuria and bioavailability of glycomacropeptide compared to an l-amino acid-based product.Journal of inherited metabolic disease · 2025Article
- What is known about patients' quality of life with Phenylketonuria and their caregivers? A scoping review.Orphanet journal of rare diseases · 2024Article
- Inborn errors of amino acid metabolism - from underlying pathophysiology to therapeutic advances.Disease models & mechanisms · 2023Article
15 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
18 authors at 14 institutions in 2 countries.
Funding
Abstract
During 1967-1983, the Maternal and Child Health Division of the Public Health Services funded a collaborative study of 211 newborn infants identified on newborn screening as having phenylketonuria (PKU). Subsequently, financial support was provided by the National Institute of Child Health and Human Development (NICHD). The infants were treated with a phenylalanine (Phe)-restricted diet to age 6 years and then randomized either to continue the diet or to discontinue dietary treatment altogether. One hundred and twenty-five of the 211 children were then followed until 10 years of age. In 1998, NICHD scheduled a Consensus Development Conference on Phenylketonuria and initiated a study to follow up the participants from the original Collaborative Study to evaluate their present medical, nutritional, psychological, and socioeconomic status. Fourteen of the original clinics (1967-1983) participated in the Follow-up Study effort. Each clinic director was provided with a list of PKU subjects who had completed the original study (1967-1983), and was asked to evaluate as many as possible using a uniform protocol and data collection forms. In a subset of cases, magnetic resonance imaging and spectroscopy (MRI/MRS) were performed to study brain Phe concentrations. The medical evaluations revealed that the subjects who maintained a phenylalanine-restricted diet reported fewer problems than the diet discontinuers, who had an increased rate of eczema, asthma, mental disorders, headache, hyperactivity and hypoactivity. Psychological data showed that lower intellectual and achievement test scores were associated with dietary discontinuation and with higher childhood and adult blood Phe concentrations. Abnormal MRI results were associated with higher brain Phe concentrations. Early dietary discontinuation for subjects with PKU is associated with poorer outcomes not only in intellectual ability, but also in achievement test scores and increased rates of medical and behavioural problems.
Indexed as
Identifiers
What OpenQuestion holds
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.