ArticleMolecular genetics and metabolism reports2019
The financial and time burden associated with phenylketonuria treatment in the United States.
Article in Molecular genetics and metabolism reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers, 3 of them syntheses that pooled it.
What it found
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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.
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Who cites it
43 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- The Economic and Humanistic Burden of Phenylketonuria Among Patients and Their Caregivers: A Systematic Literature Review.PharmacoEconomics - open · 2026Pooled it
- Is Phenylalanine Restricted Dietary Treatment in Phenylketonuria Associated with Disordered Eating: A Systematic Review.Nutrients · 2026Pooled it
- Invisible but central: family caregiving as the hidden infrastructure of pediatric PKU-an integrative review.Systematic reviews · 2026Pooled it
- A National Overview of Nutritional Care in Diet-Treated Inborn Errors of Metabolism in Brazil.International journal of environmental research and public health · 2026Article
- The impacts of caring for children with inherited metabolic diseases for families: a cross-sectional study.Orphanet journal of rare diseases · 2026Article
- Out-of-pocket expenditures, accessibility, and affordability of low-protein nutrition in rare metabolic disorders in Türkiye.BMC health services research · 2026Article
- Disease Burden and Pharmacological Treatment Patterns in Children and Adults With Phenylketonuria: A Real-World Matched Cohort Study.Journal of inherited metabolic disease · 2026Article
- Data-Related and Methodological Challenges in Assessing the Cost-Effectiveness of Traditional and Genomic Newborn Screening Programs.Applied health economics and health policy · 2026Review
- Psychometric properties of perceived barriers to PKU treatment inventory in a Brazilian national sample.Orphanet journal of rare diseases · 2025Observational
- Understanding Treatment Adherence in Chronic Diseases: Challenges, Consequences, and Strategies for Improvement.Journal of clinical medicine · 2025Review
- Out-of-pocket costs, time burden, and caregiver quality of life associated with pediatric medically attended respiratory syncytial virus illnesses.Cost effectiveness and resource allocation : C/E · 2025Article
- Our lives with PKU: German patient voices - "Nothing about us without us".Molecular genetics and metabolism reports · 2025Article
- A retrospective study of insurance coverage status and economic cost of rare diseases in Hainan Province.Scientific reports · 2025Article
- Impact of classical homocystinuria on health care resource utilization and costs in the United States: A retrospective cohort study.Molecular genetics and metabolism reports · 2025Article
- The impact of rare diseases on the quality of life in paediatric patients: current status.Frontiers in public health · 2025Review
- Assessing the lived experiences of females with phenylketonuria in their health management.Molecular genetics and metabolism reports · 2024Article
- Treating the whole patient: Facilitating health care for patients facing health inequity.Molecular genetics and metabolism reports · 2024Article
- Navigating social determinants of health barriers in the management of phenylketonuria.Molecular genetics and metabolism reports · 2024Article
- Insurance Reimbursement for Special Foods and Phenylalanine Levels in Patients With PKU in China.JAMA network open · 2024Article
- Factors Impacting the Reduction in Neophobia Prevalence in Phenylketonuria Patients.Nutrients · 2024Article
Corrections and comments
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPhenylketonuria (PKU) imposes a substantial burden on people living with the condition and their families. However, little is known about the time cost and financial burden of having PKU or caring for a child with the condition. METHODS AND
findingsPrimary data were collected with a detailed cost and utilization survey. Primary outcomes included utilization and out-of-pocket costs of medical services, medical formula, and prescribed low-protein food consumption, as well as the time and perceived effort involved in following the PKU diet. Respondents were people living with PKU or parents of children with PKU identified through a state newborn screening program database. Secondary administrative claims data were also used to calculate mean total, insurer, and out-of-pocket payments in inpatient, outpatient (office visits, emergency room, and laboratory tests), and pharmacy settings for privately insured persons with PKU. Payments were calculated for sapropterin and for PKU formula.In primary data analysis (children
conclusionTreatment for PKU incurs a substantial time and cost burden on persons with PKU and their families. Estimated medical expenditures using claims data varied by age group, but sapropterin represented the largest cost for PKU treatment from a payer perspective across age groups.
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