ReviewGenetics in medicine : official journal of the American College of Medical Genetics2013
Newborn screening 50 years later: access issues faced by adults with PKU.
Review in Genetics in medicine : official journal of the American College of Medical Genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04969809 (Comparison of Atherogenic Risk Factors and Efficacy of Nutritional Treatment Among Adult Phenylketonuria Patients), which is not on this map. Cited by 56 papers, 3 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.
Comparison of Atherogenic Risk Factors and Efficacy of Nutritional Treatment Among Adult Phenylketonuria Patients
Who cites it
56 citing papers in PubMed, 3 syntheses or guidelines pooled it, 133 citations in OpenAlex.
- Characterisation and differential diagnosis of neurological complications in adults with phenylketonuria: literature review and expert opinion.Journal of neurology · 2023Pooled it
- A systematic review of cognitive functioning in early treated adults with phenylketonuria.Orphanet journal of rare diseases · 2018Pooled it
- Systematic Review and Meta-Analysis of Neuropsychiatric Symptoms and Executive Functioning in Adults With Phenylketonuria.Developmental neuropsychologyPooled it
- Article
- Disease Burden and Pharmacological Treatment Patterns in Children and Adults With Phenylketonuria: A Real-World Matched Cohort Study.Journal of inherited metabolic disease · 2026Article
- Navigating adulthood with PKU: metabolic outcomes, quality of life, and mental health 4.5 years post-transition.Orphanet journal of rare diseases · 2026Article
- A Zebra in Horse's Clothing: Rethinking the Diagnosis of Rare Diseases.Molecular genetics & genomic medicine · 2025Review
- Psychometric properties of perceived barriers to PKU treatment inventory in a Brazilian national sample.Orphanet journal of rare diseases · 2025Observational
- Our lives with PKU: German patient voices - "Nothing about us without us".Molecular genetics and metabolism reports · 2025Article
- Newborn screening for central congenital hypothyroidism: past, present and future.European thyroid journal · 2025Review
- Article
- Health economic impact of patients with phenylketonuria (PKU) in France - A nationwide study of health insurance claims data.Molecular genetics and metabolism reports · 2024Article
- Assessing the lived experiences of females with phenylketonuria in their health management.Molecular genetics and metabolism reports · 2024Article
- The challenge of adults with phenylketonuria who have been lost to care; a single center's attempt to reach those diagnosed with PKU over 60 years of newborn screening.Molecular genetics and metabolism reports · 2024Article
- Poor adherence during adolescence is a risk factor for becoming lost-to-follow-up in patients with phenylketonuria.Molecular genetics and metabolism reports · 2024Article
- Next-generation sequencing based newborn screening and comparative analysis with MS/MS.BMC pediatrics · 2024Article
- Phenylketonuria from the perspectives of patients in Türkiye.Orphanet journal of rare diseases · 2024Article
- Adult PKU Clinics in the UK-Users' Experiences and Perspectives.Nutrients · 2023Article
- Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria.Nutrients · 2023Article
- Newborn sequencing is only part of the solution for better child health.Lancet regional health. Americas · 2023Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 8 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fifty years after the implementation of universal newborn screening programs for phenylketonuria, the first disease identified through newborn screening and considered a success story of newborn screening, a cohort of adults with phenylketonuria treated from birth provides valuable information about effects of long-term treatment for inborn errors of metabolism in general, and phenylketonuria specifically. For phenylketonuria, newborn screening allows early implementation of the phenylalanine-restricted diet, eliminating the severe neurocognitive and neuromotor impairment associated with untreated phenylketonuria. However, executive function impairments and psychiatric problems are frequently reported even for those treated early and continuously with the phenylalanine-restricted diet alone. Moreover, a large percentage of adults with phenylketonuria are reported as lost to follow-up by metabolic clinics. While a group of experts identified by the National Institutes of Health convenes to update treatment guidelines for phenylketonuria, we explore individual patient, social, and economic factors preventing >70% of adult phenylketonuria patients in the United States from accessing treatment. As more conditions are identified through newborn screening, factors affecting access to treatment grow in importance, and we must continue to be vigilant in assessing and addressing factors that affect patient treatment outcomes and not just celebrate amelioration of the most severe manifestations of disease.
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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.