Observational studyJournal of inherited metabolic disease2017
Household financial burden of phenylketonuria and its impact on treatment in China: a cross-sectional study.
Observational study in Journal of inherited metabolic disease, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 2 of them syntheses that pooled it.
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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
25 citing papers in PubMed, 2 syntheses or guidelines pooled it, 39 citations in OpenAlex.
- 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
- Improving phenylalanine and micronutrients status of children with phenylketonuria: a pilot randomized study.Orphanet journal of rare diseases · 2021Trial
- Care of patients with Phenylketonuria (PKU) in Germany - a claims data analysis from 2013 to 2023.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
- Evolution and synergy of healthcare security policies for rare diseases in China: a quantitative content analysis.Frontiers in public health · 2026Article
- Psychometric properties of perceived barriers to PKU treatment inventory in a Brazilian national sample.Orphanet journal of rare diseases · 2025Observational
- Global Clinical Practice in Transitioning Protein Substitutes for Children with Phenylketonuria.Nutrients · 2025Article
- A retrospective study of insurance coverage status and economic cost of rare diseases in Hainan Province.Scientific reports · 2025Article
- Comparison of Cost Analysis in Patients with Tetrahydrobiopterin-Responsive and Non-Responsive Phenylketonuria in Turkey.Nutrients · 2024Article
- A Qualitative Investigation into the Determinants of Unfulfilled Needs in Caregivers of Patients with Phenylketonuria.Patient preference and adherence · 2024Article
- Methods used to account for caregivers' sex and gender within studies examining the financial burden of caregivers of children and adolescents : Results from a scoping review.ClinicoEconomics and outcomes research : CEOR · 2024Article
- Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria.Nutrients · 2023Article
- Professional activity, gender and disease-related emotions: The impact on parents' experiences in caring for children with phenylketonuria.Molecular genetics and metabolism reports · 2023Article
- Out-of-pocket healthcare expenditures of Turkish households living with rare diseases.Frontiers in public health · 2023Article
- Special Low Protein Foods Prescribed in England for PKU Patients: An Analysis of Prescribing Patterns and Cost.Nutrients · 2021Article
- Health economic burden of patients with phenylketonuria (PKU) - A retrospective study of German health insurance claims data.Molecular genetics and metabolism reports · 2021Article
- Unmet needs in PKU and the disease impact on the day-to-day lives in Brazil: Results from a survey with 228 patients and their caregivers.Molecular genetics and metabolism reports · 2020Article
- The first study of successful pregnancies in Chinese patients with Phenylketonuria.BMC pregnancy and childbirth · 2020Article
Corrections and comments
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPhenylketonuria (PKU) is a rare inborn disease, which, untreated, leading to severe neurobehavioral dysfunction. Considering its complexity, the management of PKU may bring a formidable economic burden to parents and caregivers. It is still unknown what the out-of-pocket expenses are for a patient with PKU in China. This paper explores the household financial burden of classical PKU and its impact on Chinese families in a quantitative manner for the first time.
methodsA non-interventional and observational study was conducted at the China-Japan Friendship Hospital, one of the national centers for inherited metabolic disorders in China. The medical and non-medical household financial burdens were consolidated into a questionnaire to evaluate the out-of-pocket costs (OOPCs) of PKU treatment and follow-up.
findingsThe total OOPCs were USD$3766.1 (0y), USD$3795.2 (1-2 ys), USD$4657.7 (3-4 ys), USD$5979.9 (5-8 ys), and USD$5588.7 (9 ys and older) for PKU patients of different age groups. The median economic burden of classical PKU was 75.0 % of total annual family income (range 1.0-779.1 %), and 94.4 % of the families exceeding the threshold considered as catastrophic expenditure. There was a negative correlation between the financial burden and the proportion of time when Phe concentrations were in the desired target range (120-250 μmol/L) in 0-4-ys group (r = -0.474, p = 0.026).
conclusionsThe management of PKU is associated with a severe financial burden on patients' families, which may lead to insufficient treatment or variation of blood Phe concentration. The current reimbursement policies are as yet inadequate. A national reimbursement system targeting treatment practices for PKU patients and other rare diseases across China is imperative.
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