Clinical assessment of growth patterns, weight, and dietary management in children and adults with phenylketonuria – a retrospective study
Children with phenylketonuria following a restricted diet achieve normal growth. However, overweight and obesity rates rise with age, particularly in adults with the most severe phenotype, suggesting disease severity may influence weight gain. The potential link between high phenylalanine levels and overweight requires further investigation. These findings highlight the need for ongoing weight and metabolic monitoring, as well as strategies to support weight management in adults with phenylketonuria.
Authors
- Christine Jørgensen
- Mette Cathrine Ørngreen (ORCID: https://orcid.org/0000-0002-2991-6309)
- Olivia Fjellbirkeland (ORCID: https://orcid.org/0000-0003-1983-1456)
- Allan M. Lund (ORCID: https://orcid.org/0000-0002-6091-7879)
- Helle Mätzke Rasmussen (ORCID: https://orcid.org/0000-0002-7522-8144)
- Lionesa Bahtiri (ORCID: https://orcid.org/0000-0002-7502-9321)
- Kirsten Ahring (ORCID: https://orcid.org/0000-0002-6518-2226)
- Janne Meedon Hermansen
Institutions
- Copenhagen University Hospital (DK)
- Rigshospitalet (DK)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-12-13
- DOI
- https://doi.org/10.1186/s13023-025-04136-x
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00