The Influence of Phenylalanine Fluctuations and Intake on a 24 h Sapropterin Responsiveness Test in Patients with Phenylketonuria

The Influence of Phenylalanine Fluctuations and Intake on a 24 h Sapropterin Responsiveness Test in Patients with Phenylketonuria

Patients with phenylketonuria (PKU) who retain residual phenylalanine hydroxylase (PAH) activity may benefit from sapropterin dihydrochloride (sapropterin) administration. Objective: To characterize sapropterin responsiveness in patients with PKU and investigate the impact of natural fluctuations in...

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Bibliographic Details
Main Authors: Ana Jaqueline Nunes, Bianca Fasolo Franceschetto, Lisiane da Gama, Soraia Poloni, Lilia Farret Refosco, Tassia Tonon, Vaneisse Monteiro, Rafael Hencke Tresbach, Fernanda Sperb-Ludwig, François Maillot, Ida Vanessa Doederlein Schwartz
Format: Article
Language:English
Published: MDPI AG 2025-04-01
Series:Children
Subjects:
phenylketonuria
responsiveness
BH4
tetrahydrobiopterin
sapropterin
Online Access:https://www.mdpi.com/2227-9067/12/5/541
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