Buchumschlag

Defining tetrahydrobiopterin responsiveness in phenylketonuria: survey results from 38 countries

Background - A subset of patients with phenylketonuria benefit from treatment with tetrahydrobiopterin (BH4), although there is no consensus on the definition of BH4 responsiveness. The aim of this study therefore was to gain insight into the definitions of long-term BH4 responsiveness being used ar...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Hauptverfasser: Evers, Roeland A. F. (VerfasserIn) , van Wegberg, A. M. J. (VerfasserIn) , Ahring, K. (VerfasserIn) , Beblo, S. (VerfasserIn) , Bélanger-Quintana, A. (VerfasserIn) , Bosch, A. M. (VerfasserIn) , Burlina, A. (VerfasserIn) , Campistol, J. (VerfasserIn) , Coskun, T. (VerfasserIn) , Feillet, F. (VerfasserIn) , Giżewska, M. (VerfasserIn) , Huijbregts, S. C. J. (VerfasserIn) , Kearney, S. (VerfasserIn) , Langeveld, M. (VerfasserIn) , Leuzzi, V. (VerfasserIn) , Maillot, F. (VerfasserIn) , Muntau, A. C. (VerfasserIn) , Rocha, J. C. (VerfasserIn) , Romani, C. (VerfasserIn) , Trefz, Friedrich K. (VerfasserIn) , MacDonald, A. (VerfasserIn) , van Spronsen, F. J. (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: 4 February 2021
In: Molecular genetics and metabolism
Year: 2021, Jahrgang: 132, Heft: 4, Pages: 215-219
ISSN:1096-7206
DOI:10.1016/j.ymgme.2021.01.013
Online-Zugang:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1016/j.ymgme.2021.01.013
Verlag, lizenzpflichtig, Volltext: https://www.sciencedirect.com/science/article/pii/S1096719221000330
Volltext
Verfasserangaben:R.A.F. Evers, A.M.J. van Wegberg, K. Ahring, S. Beblo, A. Bélanger-Quintana, A.M. Bosch, A. Burlina, J. Campistol, T. Coskun, F. Feillet, M. Giżewska, S.C.J. Huijbregts, S. Kearney, M. Langeveld, V. Leuzzi, F. Maillot, A.C. Muntau, J.C. Rocha, C. Romani, F.K. Trefz, A. MacDonald, F.J. van Spronsen
Beschreibung
Zusammenfassung:Background - A subset of patients with phenylketonuria benefit from treatment with tetrahydrobiopterin (BH4), although there is no consensus on the definition of BH4 responsiveness. The aim of this study therefore was to gain insight into the definitions of long-term BH4 responsiveness being used around the world. - Methods - We performed a web-based survey targeting healthcare professionals involved in the treatment of PKU patients. Data were analysed according to geographical region (Europe, USA/Canada, other). - Results - We analysed 166 responses. Long-term BH4 responsiveness was commonly defined using natural protein tolerance (95.6%), improvement of metabolic control (73.5%) and increase in quality of life (48.2%). When a specific value for a reduction in phenylalanine concentrations was reported (n = 89), 30% and 20% were most frequently used as cut-off values (76% and 19% of respondents, respectively). When a specific relative increase in natural protein tolerance was used to define long-term BH4 responsiveness (n = 71), respondents most commonly reported cut-off values of 30% and 100% (28% of respondents in both cases). Respondents from USA/Canada (n = 50) generally used less strict cut-off values compared to Europe (n = 96). Furthermore, respondents working within the same center answered differently. - Conclusion - The results of this study suggest a very heterogeneous situation on the topic of defining long-term BH4 responsiveness, not only at a worldwide level but also within centers. Developing a strong evidence- and consensus-based definition would improve the quality of BH4 treatment.
Beschreibung:Gesehen am 12.05.2021
Beschreibung:Online Resource
ISSN:1096-7206
DOI:10.1016/j.ymgme.2021.01.013

Ähnliche Einträge