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Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countries

Standard

Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countries. / Evers, R A F; van Wegberg, A M J; Ahring, K; Beblo, S; Bélanger-Quintana, A; Bosch, A M; Burlina, A; Campistol, J; Coskun, T; Feillet, F; Giżewska, M; Huijbregts, S C J; Kearney, S; Langeveld, M; Leuzzi, V; Maillot, F; Muntau, A C; Rocha, J C; Romani, C; Trefz, F K; MacDonald, A; van Spronsen, F J.

In: MOL GENET METAB, Vol. 132, No. 4, 04.2021, p. 215-219.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Evers, RAF, van Wegberg, AMJ, Ahring, K, Beblo, S, Bélanger-Quintana, A, Bosch, AM, Burlina, A, Campistol, J, Coskun, T, Feillet, F, Giżewska, M, Huijbregts, SCJ, Kearney, S, Langeveld, M, Leuzzi, V, Maillot, F, Muntau, AC, Rocha, JC, Romani, C, Trefz, FK, MacDonald, A & van Spronsen, FJ 2021, 'Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countries', MOL GENET METAB, vol. 132, no. 4, pp. 215-219. https://doi.org/10.1016/j.ymgme.2021.01.013

APA

Evers, R. A. F., van Wegberg, A. M. J., Ahring, K., Beblo, S., Bélanger-Quintana, A., Bosch, A. M., Burlina, A., Campistol, J., Coskun, T., Feillet, F., Giżewska, M., Huijbregts, S. C. J., Kearney, S., Langeveld, M., Leuzzi, V., Maillot, F., Muntau, A. C., Rocha, J. C., Romani, C., ... van Spronsen, F. J. (2021). Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countries. MOL GENET METAB, 132(4), 215-219. https://doi.org/10.1016/j.ymgme.2021.01.013

Vancouver

Evers RAF, van Wegberg AMJ, Ahring K, Beblo S, Bélanger-Quintana A, Bosch AM et al. Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countries. MOL GENET METAB. 2021 Apr;132(4):215-219. https://doi.org/10.1016/j.ymgme.2021.01.013

Bibtex

@article{cae46dd3351c4d2fb22e5c859cfddecc,
title = "Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countries",
abstract = "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.",
keywords = "Biopterin/adverse effects, Canada/epidemiology, Europe/epidemiology, Humans, Phenylalanine/blood, Phenylalanine Hydroxylase/genetics, Phenylketonurias/blood, United States/epidemiology",
author = "Evers, {R A F} and {van Wegberg}, {A M J} and K Ahring and S Beblo and A B{\'e}langer-Quintana and Bosch, {A M} and A Burlina and J Campistol and T Coskun and F Feillet and M Gi{\.z}ewska and Huijbregts, {S C J} and S Kearney and M Langeveld and V Leuzzi and F Maillot and Muntau, {A C} and Rocha, {J C} and C Romani and Trefz, {F K} and A MacDonald and {van Spronsen}, {F J}",
note = "Copyright {\textcopyright} 2021 The Authors. Published by Elsevier Inc. All rights reserved.",
year = "2021",
month = apr,
doi = "10.1016/j.ymgme.2021.01.013",
language = "English",
volume = "132",
pages = "215--219",
journal = "MOL GENET METAB",
issn = "1096-7192",
publisher = "Academic Press Inc.",
number = "4",

}

RIS

TY - JOUR

T1 - Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countries

AU - Evers, R A F

AU - van Wegberg, A M J

AU - Ahring, K

AU - Beblo, S

AU - Bélanger-Quintana, A

AU - Bosch, A M

AU - Burlina, A

AU - Campistol, J

AU - Coskun, T

AU - Feillet, F

AU - Giżewska, M

AU - Huijbregts, S C J

AU - Kearney, S

AU - Langeveld, M

AU - Leuzzi, V

AU - Maillot, F

AU - Muntau, A C

AU - Rocha, J C

AU - Romani, C

AU - Trefz, F K

AU - MacDonald, A

AU - van Spronsen, F J

N1 - Copyright © 2021 The Authors. Published by Elsevier Inc. All rights reserved.

PY - 2021/4

Y1 - 2021/4

N2 - 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.

AB - 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.

KW - Biopterin/adverse effects

KW - Canada/epidemiology

KW - Europe/epidemiology

KW - Humans

KW - Phenylalanine/blood

KW - Phenylalanine Hydroxylase/genetics

KW - Phenylketonurias/blood

KW - United States/epidemiology

U2 - 10.1016/j.ymgme.2021.01.013

DO - 10.1016/j.ymgme.2021.01.013

M3 - SCORING: Journal article

C2 - 33610470

VL - 132

SP - 215

EP - 219

JO - MOL GENET METAB

JF - MOL GENET METAB

SN - 1096-7192

IS - 4

ER -