PKU dietary handbook to accompany PKU guidelines

A. MacDonald; A. M.J. Van Wegberg; K. Ahring; S. Beblo; A. Bélanger-Quintana; A. Burlina; J. Campistol; T. Coşkun; F. Feillet; M. Giżewska; S. C. Huijbregts; V. Leuzzi; F. Maillot; A. C. Muntau; J. C. Rocha; J. C. Rocha; C. Romani; F. Trefz; F. J. Van Spronsen

doi:10.1186/s13023-020-01391-y

PKU dietary handbook to accompany PKU guidelines

A. MacDonald, A. M.J. Van Wegberg, K. Ahring, S. Beblo, A. Bélanger-Quintana, A. Burlina, J. Campistol, T. Coşkun, F. Feillet, M. Giżewska, S. C. Huijbregts, V. Leuzzi, F. Maillot, A. C. Muntau, J. C. Rocha, J. C. Rocha, C. Romani, F. Trefz, F. J. Van Spronsen^*

^*Corresponding author for this work

Research output: Contribution to journal › Review article › peer-review

Abstract

Background: Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine. Main body: In 2017 the first European PKU Guidelines were published. These guidelines contained evidence based and/or expert opinion recommendations regarding diagnosis, treatment and care for patients with PKU of all ages. This manuscript is a supplement containing the practical application of the dietary treatment. Conclusion: This handbook can support dietitians, nutritionists and physicians in starting, adjusting and maintaining dietary treatment.

Original language	English
Article number	171
Journal	Orphanet Journal of Rare Diseases
Volume	15
Issue number	1
DOIs	https://doi.org/10.1186/s13023-020-01391-y
Publication status	Published - 30 Jun 2020

Bibliographical note

© The Author(s). 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License,
which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give
appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if
changes were made. The images or other third party material in this article are included in the article's Creative Commons
licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons
licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain
permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.
The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the
data made available in this article, unless otherwise stated in a credit line to the data.

Keywords

Diet
Guidelines
Phenylketonuria
PKU
Recommendations
Treatment

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10.1186/s13023-020-01391-yLicence: CC BY 3.0

PKU dietary handbook to accompany PKU guidelines
© The Author(s). 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
Final published version, 1.08 MBLicence: CC BY 3.0

Cite this

MacDonald, A., Van Wegberg, A. M. J., Ahring, K., Beblo, S., Bélanger-Quintana, A., Burlina, A., Campistol, J., Coşkun, T., Feillet, F., Giżewska, M., Huijbregts, S. C., Leuzzi, V., Maillot, F., Muntau, A. C., Rocha, J. C., Rocha, J. C., Romani, C., Trefz, F., & Van Spronsen, F. J. (2020). PKU dietary handbook to accompany PKU guidelines. Orphanet Journal of Rare Diseases, 15(1), Article 171. https://doi.org/10.1186/s13023-020-01391-y

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abstract = "Background: Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine. Main body: In 2017 the first European PKU Guidelines were published. These guidelines contained evidence based and/or expert opinion recommendations regarding diagnosis, treatment and care for patients with PKU of all ages. This manuscript is a supplement containing the practical application of the dietary treatment. Conclusion: This handbook can support dietitians, nutritionists and physicians in starting, adjusting and maintaining dietary treatment. ",

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MacDonald, A, Van Wegberg, AMJ, Ahring, K, Beblo, S, Bélanger-Quintana, A, Burlina, A, Campistol, J, Coşkun, T, Feillet, F, Giżewska, M, Huijbregts, SC, Leuzzi, V, Maillot, F, Muntau, AC, Rocha, JC, Rocha, JC, Romani, C, Trefz, F & Van Spronsen, FJ 2020, 'PKU dietary handbook to accompany PKU guidelines', Orphanet Journal of Rare Diseases, vol. 15, no. 1, 171. https://doi.org/10.1186/s13023-020-01391-y

TY - JOUR

T1 - PKU dietary handbook to accompany PKU guidelines

AU - MacDonald, A.

AU - Van Wegberg, A. M.J.

AU - Ahring, K.

AU - Beblo, S.

AU - Bélanger-Quintana, A.

AU - Burlina, A.

AU - Campistol, J.

AU - Coşkun, T.

AU - Feillet, F.

AU - Giżewska, M.

AU - Huijbregts, S. C.

AU - Leuzzi, V.

AU - Maillot, F.

AU - Muntau, A. C.

AU - Rocha, J. C.

AU - Romani, C.

AU - Trefz, F.

AU - Van Spronsen, F. J.

N1 - © The Author(s). 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.

PY - 2020/6/30

Y1 - 2020/6/30

N2 - Background: Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine. Main body: In 2017 the first European PKU Guidelines were published. These guidelines contained evidence based and/or expert opinion recommendations regarding diagnosis, treatment and care for patients with PKU of all ages. This manuscript is a supplement containing the practical application of the dietary treatment. Conclusion: This handbook can support dietitians, nutritionists and physicians in starting, adjusting and maintaining dietary treatment.

AB - Background: Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine. Main body: In 2017 the first European PKU Guidelines were published. These guidelines contained evidence based and/or expert opinion recommendations regarding diagnosis, treatment and care for patients with PKU of all ages. This manuscript is a supplement containing the practical application of the dietary treatment. Conclusion: This handbook can support dietitians, nutritionists and physicians in starting, adjusting and maintaining dietary treatment.

KW - Diet

KW - Guidelines

KW - Phenylketonuria

KW - PKU

KW - Recommendations

KW - Treatment

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U2 - 10.1186/s13023-020-01391-y

DO - 10.1186/s13023-020-01391-y

M3 - Review article

C2 - 32605583

AN - SCOPUS:85087403325

SN - 1750-1172

VL - 15

JO - Orphanet Journal of Rare Diseases

JF - Orphanet Journal of Rare Diseases

IS - 1

M1 - 171

ER -

PKU dietary handbook to accompany PKU guidelines

Abstract

Bibliographical note

Keywords

Access to Document

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Correction to: PKU dietary handbook to accompany PKU guidelines (Orphanet Journal of Rare Diseases (2020) 15 (171) DOI: 10.1186/s13023-020-01391-y)

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