ArticleNutrients2021
Current Practices and Challenges in the Diagnosis and Management of PKU in Latin America: A Multicenter Survey.
Article in Nutrients, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 21 citations in OpenAlex.
- Burden of phenylketonuria in Latin American patients: a systematic review and meta-analysis of observational studies.Orphanet journal of rare diseases · 2022Pooled 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
- Integrating the Genomic Revolution into Newborn Screening: Current Challenges and Future Perspectives.Pediatric reports · 2026Review
- Patient journey and disease burden characterization of the population with phenylketonuria (PKU) in Brazil: a retrospective analysis through data reported in the public health system administrative database (DATASUS).Lancet regional health. Americas · 2025Article
- Rethinking phenylalanine levels in phenylketonuria for optimal neurocognitive development beyond childhood.Frontiers in pediatrics · 2025Article
- Expanding diversity within phenylketonuria in ecuadorian patients: genetic analysis and literature review of newborn screenings.BMC pediatrics · 2024Review
- Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023).International journal of neonatal screening · 2024Review
- Adherence to PKU guidelines among patients with phenylketonuria: A cross-sectional national multicenter survey-based study in Argentina, Brazil, and Mexico.Molecular genetics and metabolism reports · 2024Article
- Navigating phenylketonuria management to improve it in Latin America: a systematic literature review and applicability analysis.Frontiers in nutrition · 2024Review
- Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria.Nutrients · 2023Article
- Life story of Iranian parents of a child with phenylketonuria: a qualitative study.Journal of community genetics · 2023Article
- The BMI Z-Score and Protein Energy Ratio in Early- and Late-Diagnosed PKU Patients from a Single Reference Center in Mexico.Nutrients · 2023Article
- Screening and mutation analysis of phenylalanine hydroxylase deficiency in newborns from Jiangxi province.Frontiers in genetics · 2023Article
Corrections and comments
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Authors and funding
27 authors at 18 institutions in 11 countries.
Funding
Abstract
This study aimed to describe the current practices in the diagnosis and dietary management of phenylketonuria (PKU) in Latin America, as well as the main barriers to treatment. We developed a 44-item online survey aimed at health professionals. After a pilot test, the final version was sent to 25 practitioners working with inborn errors of metabolism (IEM) in 14 countries. Our results include 22 centers in 13 countries. Most countries (12/13) screened newborns for PKU. Phenylalanine (Phe) targets at different ages were very heterogeneous among centers, with greater consistency at the 0-1 year age group (14/22 sought 120-240 µmol/L) and the lowest at >12 years (10 targets reported). Most countries had only unflavored powdered amino acid substitutes (10/13) and did not have low-protein foods (8/13). Only 3/13 countries had regional databases of the Phe content of foods, and only 4/22 centers had nutrient analysis software. The perceived obstacles to treatment were: low purchasing power (62%), limited/insufficient availability of low-protein foods (60%), poor adherence, and lack of technical resources to manage the diet (50% each). We observed a heterogeneous scenario in the dietary management of PKU, and most countries experienced a lack of dietary resources for both patients and health professionals.
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Registered trials
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