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
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2020.100624
Abstract: Background Accumulation of phenylalanine (Phe) due to deficiency in the enzyme phenylalanine hydroxylase (PAH), responsible for the conversion of Phe into tyrosine leads to Phenylketonuria (PKU), a rare autosomal recessive inborn error of metabolism with… read more here.
Keywords: patients caregivers; survey; pku patients; day ... See more keywords
Health economic burden of patients with phenylketonuria (PKU) – A retrospective study of German health insurance claims data
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2021.100764
Abstract: This retrospective matched-cohort analysis compared health-economic burdens of adults (≥18 years; n = 377) with phenylketonuria (PKU) and age/gender-matched non-PKU controls (n = 3770) in Germany. Healthcare costs and resource-utilization were analyzed for the year… read more here.
Keywords: health economic; economic burden; phenylketonuria pku; pku patients ... See more keywords
An Overview of Traditional and Novel Therapeutic Options for the Management of Phenylketonuria.
Sign Up to like & getrecommendations! Published in 2018 at "Critical reviews in eukaryotic gene expression"
DOI: 10.1615/critreveukaryotgeneexpr.2018023073
Abstract: Phenylketonuria (PKU) is an autosomal recessive disorder caused by the deficiency of phenylalanine hydroxylase enzyme that catalyzes the conversion of L-phenylalanine to L-tyrosine using tetrahydrobiopterin (BH4) as a cofactor. Among aminoacidopathies, PKU is one of… read more here.
Keywords: bh4; overview traditional; pku patients; traditional novel ... See more keywords
Bone Status in Patients with Phenylketonuria: A Systematic Review
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DOI: 10.3390/nu12072154
Abstract: Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism. Although dietary and, in some cases, pharmacological treatment has been successful in preventing intellectual disability in PKU patients who are treated early, suboptimal… read more here.
Keywords: systematic review; pku patients; bone status; bone ... See more keywords
Dietary Liberalization in Tetrahydrobiopterin-Treated PKU Patients: Does It Improve Outcomes?
Sign Up to like & getrecommendations! Published in 2022 at "Nutrients"
DOI: 10.3390/nu14183874
Abstract: Purpose: this systematic review aimed to assess the effects of dietary liberalization following tetrahydrobiopterin (BH4) treatment on anthropometric measurements, nutritional biomarkers, quality of life, bone density, mental health and psychosocial functioning, and burden of care… read more here.
Keywords: pku patients; dietary liberalization; bh4 treatment; liberalization ... See more keywords
The BMI Z-Score and Protein Energy Ratio in Early- and Late-Diagnosed PKU Patients from a Single Reference Center in Mexico
Sign Up to like & getrecommendations! Published in 2023 at "Nutrients"
DOI: 10.3390/nu15040957
Abstract: The relationship between protein and energy and their appropriate proportions in hyperphenylalaninemia (HPA) or phenylketonuria (PKU) patients in terms of growth have been poorly studied, especially in those diagnosed late. We aimed to describe the… read more here.
Keywords: late diagnosed; pku patients; bmi score; score ... See more keywords