European guidelines on diagnosis and treatment of phenylketonuria: First revision.

Phenylketonuria (PKU) is an autosomal recessive inherited disorder of phenylalanine metabolism caused by deficiency of the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine. Untreated, PKU results in elevated phenylalanine levels in blood and brain, which cause severe intell...

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Autores: van Wegberg AMJ, MacDonald A, Ahring K, Bélanger-Quintana A, Beblo S, Blau N, Bosch AM, Burlina A, Campistol J, Coskun T, Feillet F, Gizewska M, Huijbregts SC, Leuzzi V, Maillot F, Muntau AC, Rocha JC, Romani C, Trefz F, van Spronsen FJ
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2025
País:España
Institución:Fundació Sant Joan de Déu
Repositorio:r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
OAI Identifier:oai:fsjd.fundanetsuite.com:p28620
Acceso en línea:https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=28620
Access Level:acceso abierto
Palabra clave:PKU
Recommendations
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spelling European guidelines on diagnosis and treatment of phenylketonuria: First revision.van Wegberg AMJMacDonald AAhring KBélanger-Quintana ABeblo SBlau NBosch AMBurlina ACampistol JCoskun TFeillet FGizewska MHuijbregts SCLeuzzi VMaillot FMuntau ACRocha JCRomani CTrefz Fvan Spronsen FJPKURecommendationsPhenylketonuria (PKU) is an autosomal recessive inherited disorder of phenylalanine metabolism caused by deficiency of the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine. Untreated, PKU results in elevated phenylalanine levels in blood and brain, which cause severe intellectual disability, epilepsy and behavioural problems. For this first revision of the European PKU Guidelines previous recommendations were re-evaluated and updated according to new research findings. Twenty-one professionals were divided across four working groups and supported by a coordinator and chair. In addition to an update of the previous 70 recommendations, 20 new topics were included, resulting in a total of 87 statements in this first revision of the guidelines. Research publications were reviewed up until September 2022. Evidence was graded as high, moderate, low, very low or expert opinion and the recommendations were graded conditional or strong according to GRADE methodology. All recommendations were discussed during 14 plenary online or in person meetings. Recommendations were accepted if more than 75 % of the professionals were in agreement. When recommendations were not amended, the text reported in the European guidelines of 2017 remains valid.ACADEMIC PRESS INC ELSEVIER SCIENCE2025info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttps://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=28620MOLECULAR GENETICS AND METABOLISMISSN: 10967192ISSNe: 10967206reponame:r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déuinstname:Fundació Sant Joan de DéuInglésinfo:eu-repo/semantics/openAccessoai:fsjd.fundanetsuite.com:p286202026-05-27T12:37:41Z
dc.title.none.fl_str_mv European guidelines on diagnosis and treatment of phenylketonuria: First revision.
title European guidelines on diagnosis and treatment of phenylketonuria: First revision.
spellingShingle European guidelines on diagnosis and treatment of phenylketonuria: First revision.
van Wegberg AMJ
PKU
Recommendations
title_short European guidelines on diagnosis and treatment of phenylketonuria: First revision.
title_full European guidelines on diagnosis and treatment of phenylketonuria: First revision.
title_fullStr European guidelines on diagnosis and treatment of phenylketonuria: First revision.
title_full_unstemmed European guidelines on diagnosis and treatment of phenylketonuria: First revision.
title_sort European guidelines on diagnosis and treatment of phenylketonuria: First revision.
dc.creator.none.fl_str_mv van Wegberg AMJ
MacDonald A
Ahring K
Bélanger-Quintana A
Beblo S
Blau N
Bosch AM
Burlina A
Campistol J
Coskun T
Feillet F
Gizewska M
Huijbregts SC
Leuzzi V
Maillot F
Muntau AC
Rocha JC
Romani C
Trefz F
van Spronsen FJ
author van Wegberg AMJ
author_facet van Wegberg AMJ
MacDonald A
Ahring K
Bélanger-Quintana A
Beblo S
Blau N
Bosch AM
Burlina A
Campistol J
Coskun T
Feillet F
Gizewska M
Huijbregts SC
Leuzzi V
Maillot F
Muntau AC
Rocha JC
Romani C
Trefz F
van Spronsen FJ
author_role author
author2 MacDonald A
Ahring K
Bélanger-Quintana A
Beblo S
Blau N
Bosch AM
Burlina A
Campistol J
Coskun T
Feillet F
Gizewska M
Huijbregts SC
Leuzzi V
Maillot F
Muntau AC
Rocha JC
Romani C
Trefz F
van Spronsen FJ
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv PKU
Recommendations
topic PKU
Recommendations
description Phenylketonuria (PKU) is an autosomal recessive inherited disorder of phenylalanine metabolism caused by deficiency of the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine. Untreated, PKU results in elevated phenylalanine levels in blood and brain, which cause severe intellectual disability, epilepsy and behavioural problems. For this first revision of the European PKU Guidelines previous recommendations were re-evaluated and updated according to new research findings. Twenty-one professionals were divided across four working groups and supported by a coordinator and chair. In addition to an update of the previous 70 recommendations, 20 new topics were included, resulting in a total of 87 statements in this first revision of the guidelines. Research publications were reviewed up until September 2022. Evidence was graded as high, moderate, low, very low or expert opinion and the recommendations were graded conditional or strong according to GRADE methodology. All recommendations were discussed during 14 plenary online or in person meetings. Recommendations were accepted if more than 75 % of the professionals were in agreement. When recommendations were not amended, the text reported in the European guidelines of 2017 remains valid.
publishDate 2025
dc.date.none.fl_str_mv 2025
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=28620
url https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=28620
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv ACADEMIC PRESS INC ELSEVIER SCIENCE
publisher.none.fl_str_mv ACADEMIC PRESS INC ELSEVIER SCIENCE
dc.source.none.fl_str_mv MOLECULAR GENETICS AND METABOLISM
ISSN: 10967192
ISSNe: 10967206
reponame:r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname:Fundació Sant Joan de Déu
instname_str Fundació Sant Joan de Déu
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collection r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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