ArticleMolecular genetics and metabolism reports2024
Navigating social determinants of health barriers in the management of phenylketonuria.
Article in Molecular genetics and metabolism reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- Examining the role of social workers within clinical metabolic genetics care.Molecular genetics and metabolism reports · 2026Review
- How Well Is Blood Phenylalanine Controlled in Maternal PKU in Europe? Results from 102 Pregnancies.Nutrients · 2026Article
- Article
- Out-of-pocket expenditures, accessibility, and affordability of low-protein nutrition in rare metabolic disorders in Türkiye.BMC health services research · 2026Article
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Authors and funding
2 authors.
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Abstract
Phenylketonuria (PKU) is an inborn error of amino acid metabolism that is typically identified by newborn screening. With lifelong treatment consisting of dietary management, frequent laboratory monitoring, and regular metabolic clinic visits, patients with PKU can maintain good health and metabolic control. Here, we describe the case of an 8-year-old patient with PKU who has been followed by a metabolic clinic since birth. Despite responsiveness to sapropterin, this patient has had periods of poor metabolic control throughout her life due to her family's economic hardships, including limited access to transportation, housing, food, and health insurance. This case illustrates how social determinants of health may negatively affect rare disease management and potential strategies for addressing barriers to care.
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