Background: Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine.
Main Body: In 2017 the first European PKU Guidelines were published. These guidelines contained evidence based and/or expert opinion recommendations regarding diagnosis, treatment and care for patients with PKU of all ages. This manuscript is a supplement containing the practical application of the dietary treatment.
Conclusion: This handbook can support dietitians, nutritionists and physicians in starting, adjusting and maintaining dietary treatment.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7329487 | PMC |
| http://dx.doi.org/10.1186/s13023-020-01391-y | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Sorafenib enhanced the function of myeloid-derived suppressor cells in hepatocellular carcinoma by facilitating PPARα-mediated fatty acid oxidation.
Mol Cancer
January 2025
Department of Radiation Oncology, Peking University Third Hospital, Beijing, 100191, China.
Background: Sorafenib, an FDA-approved drug for advanced hepatocellular carcinoma (HCC), faces resistance issues, partly due to myeloid-derived suppressor cells (MDSCs) that enhance immunosuppression in the tumor microenvironment (TME).
Methods: Various murine HCC cell lines and MDSCs were used in a series of in vitro and in vivo experiments. These included subcutaneous tumor models, cell viability assays, flow cytometry, immunohistochemistry, and RNA sequencing.
The longitudinal association between multiple cardiometabolic diseases, socioeconomic status, and depressive symptoms in China.
Sci Rep
January 2025
Center for Health Development Studies, Peking University, 100191, Beijing, China.
The aim of this study is to investigate the effect of cardiometabolic diseases (CMDs) on the development of depressive symptoms and to determine whether socioeconomic status (SES) moderates this effect. A total of 6,455 individual free from depressive symptoms were selected from the China Health and Retirement Longitudinal Study (CHARLS). CMDs and SES were self-reported.
View Article and Find Full Text PDFEvolution and effectiveness of bilateral and multilateral development assistance for health: a mixed-methods review of trends and strategic shifts (1990-2022).
BMJ Glob Health
January 2025
Department of Biostatistics, Peking University First Hospital, Beijing, China
Background: Development assistance for health (DAH) plays a vital role in supporting health programmes in low- and middle-income countries. While DAH has historically focused on infectious diseases and maternal and child health, there is a lack of comprehensive analysis of DAH trends, strategic shifts and their impact on health systems and outcomes. This study aims to provide a comprehensive review of DAH from 1990 to 2022, examining its evolution and funding allocation shifts.
View Article and Find Full Text PDFSpin polarization induced by atomic strain of MBene promotes the ·O production for groundwater disinfection.
Nat Commun
January 2025
School of Materials Science and Engineering, Peking University, Beijing, China.
Superbugs in groundwater are posing severe health risks through waterborne pathways. An emerging approach for green disinfection lies at photocatalysis, which levers the locally generated superoxide radical (·O) for neutralization. However, the spin-forbidden feature of O hinders the photocatalytic generation of active ·O, and thus greatly limited the disinfection efficiency, especially for real groundwater with a low dissolved oxygen (DO) concentration.
View Article and Find Full Text PDFThe relationship between serum phenylalanine levels, genotype, and developmental assessment test results in non-phenylketonuria mild hyperphenylalaninemia patients.
Eur J Pediatr
December 2024
Division of Child Neurology, Department of Paediatrics, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey.
Unlabelled: Phenylalanine (PA) levels below 360 µmol/L do not require treatment; however, cognitive deficits have been observed in patients with elevated PA levels, necessitating a safe upper limit for treatment and therapeutic objectives. The main purpose of this study is to evaluate the correlation between developmental assessments (Denver Developmental Screening Test-II [DDST-II] and Ankara Developmental Screening Inventory [ADSI]) and electroencephalogram (EEG) findings with blood PA levels and genotypic data in non-phenylketonuria mild Hyperphenylalaninemia (HPA) patients, to re-evaluate their treatment status based on potential adverse outcomes. This study encompassed 40 patients aged 1-5 years diagnosed with HPA and not on treatment, identified through initial blood PA levels, and monitored for a minimum of 1 year on an unrestricted diet.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!