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; 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, C. Romani, F. Trefz, F. J. Van Spronsen

NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)

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

172 Citations (Scopus)

101 Downloads (Pure)

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

Keywords

Diet
Guidelines
Phenylketonuria
PKU
Recommendations
Treatment

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s13023-020-01391-yFinal published version, 1.08 MB

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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., 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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title = "PKU dietary handbook to accompany PKU guidelines",

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. ",

keywords = "Diet, Guidelines, Phenylketonuria, PKU, Recommendations, Treatment",

author = "A. MacDonald and \{Van Wegberg\}, \{A. M.J.\} and K. Ahring and S. Beblo and A. B{\'e}langer-Quintana and A. Burlina and J. Campistol and T. Co{\c s}kun and F. Feillet and M. Gi{\.z}ewska and Huijbregts, \{S. C.\} and V. Leuzzi and F. Maillot and Muntau, \{A. C.\} and Rocha, \{J. C.\} and C. Romani and F. Trefz and \{Van Spronsen\}, \{F. J.\}",

year = "2020",

month = jun,

day = "30",

doi = "10.1186/s13023-020-01391-y",

language = "English",

volume = "15",

journal = "Orphanet Journal of Rare Diseases",

issn = "1750-1172",

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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, 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.

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

UR - https://www.scopus.com/pages/publications/85087403325

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

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