The Influence of Phenylalanine Fluctuations and Intake on a 24 h Sapropterin Responsiveness Test in Patients with Phenylketonuria
A 24 h sapropterin responsiveness test incorporating correction for natural fluctuations in PHE levels identified a proportion of sapropterin-responsive patients with mild PKU similar to that described in the literature. PHE consumption should be objectively controlled during the protocol to avoid bias in determining responsiveness.
Authors
- Soraia Poloni (ORCID: https://orcid.org/0000-0003-4506-6487)
- Loyane Almeida Gama (ORCID: https://orcid.org/0000-0002-8118-1047)
- Fernanda Sperb‐Ludwig (ORCID: https://orcid.org/0000-0002-2460-7064)
- Lı́lia Farret Refosco (ORCID: https://orcid.org/0000-0002-0306-6131)
- Bianca Fasolo Franceschetto (ORCID: https://orcid.org/0000-0001-5078-8893)
- Vaneisse Cristina Lima Monteiro (ORCID: https://orcid.org/0000-0003-4062-4638)
- Rafael Hencke Tresbach (ORCID: https://orcid.org/0000-0002-3685-1451)
- F. Maillot
- Tássia Tonon (ORCID: https://orcid.org/0000-0001-8504-7526)
- Ida Schwartz (ORCID: https://orcid.org/0000-0001-9001-7911)
- Ana F. Nunes (ORCID: https://orcid.org/0000-0003-4440-0391)
Institutions
- Université de Tours (FR)
- Universidade Federal do Rio Grande do Sul (BR)
- Hospital de Clínicas de Porto Alegre (BR)
Publication Details
- Journal
- Children
- Published
- 2025-04-24
- DOI
- https://doi.org/10.3390/children12050541
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Conselho Nacional de Desenvolvimento Científico e Tecnológico
- Fundação de Amparo à Pesquisa do Estado do Rio Grande do Sul