European guidelines on diagnosis and treatment of phenylketonuria: First revision.
Por:
van Wegberg AMJ, MacDonald A, Ahring K, Bélanger-Quintana A, Beblo S, Blau N, Bosch AM, Burlina A, Campistol-Plana J, Coskun T, Feillet F, Gizewska M, Huijbregts SC, Leuzzi V, Maillot F, Muntau AC, Rocha JC, Romani C, Trefz F and van Spronsen FJ
Publicada:
1 jun 2025
Ahead of Print:
30 abr 2025
Resumen:
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.
Filiaciones:
van Wegberg AMJ:
Division of Metabolic Diseases, University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, the Netherlands
MacDonald A:
Dietetic Department, Birmingham Children's Hospital, Birmingham, UK
Ahring K:
PKU clinic, Center for Inherited Metabolic Diseases, Copenhagen University Hospital, Denmark
Bélanger-Quintana A:
Metabolic Diseases Unit, Department of Paediatrics, Hospital Ramon y Cajal Madrid, Madrid, Spain
Beblo S:
Department of Women and Child Health, Center for Rare Diseases, Leipzig University Medical Center, Leipzig, Germany
Blau N:
Divisions of Metabolism, University Children's Hospital, Zürich, Switzerland
Bosch AM:
Amsterdam UMC, location University of Amsterdam, Emma Childrens' Hospital, Department of Pediatrics, Division of Metabolic Diseases, Amsterdam Gastroenterology Endocrinology and Metabolism, Amsterdam, the Netherlands
Burlina A:
Division of Inherited Metabolic Diseases, Reference Centre Expanded Newborn Screening, University Hospital Padova, Italy
Campistol-Plana J:
Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain
Coskun T:
Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey
Feillet F:
Pediatric Unit, Reference Center for Inborn Errors of Metabolism, University Hospital of Nancy, INSERM UMR_S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE), Faculty of Medicine of Nancy, University of Lorraine, Nancy, France
Gizewska M:
Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology of the Developmental Age, Pomeranian Medical University in Szczecin, Szczecin, Poland
Huijbregts SC:
Department of Clinical Child and Adolescent Studies-Neurodevelopmental Disorders, Faculty of Social Sciences, Leiden University, Leiden, The Netherlands
Leuzzi V:
Unit of Child Neurology and Psychiatry, Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy
Maillot F:
CHRU De Tours, Internal Medicine department, Reference center for inherited metabolic diseases, INSERM U1253 "iBraiN", University of Tours, Tours, France
Muntau AC:
University Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, and German Center of Child and Adolescent Health (DZKJ), Hamburg, Germany
Rocha JC:
Nutrition and Metabolism, NOVA Medical School (NMS), Faculdade de Ciências Médicas (FCM), Universidade Nova de Lisboa, 1169-056 Lisboa, Portugal
Reference Centre of Inherited Metabolic Diseases, Unidade Local de Saúde São José, 1169-045 Lisboa, Portugal
Centro de Investigação em Tecnologias e Serviços de Saúde (CINTESIS), NOVA Medical School (NMS), Faculdade de Ciências Médicas, (FCM), Universidade Nova de Lisboa, 1169-056 Lisboa, Portugal
Comprehensive Health Research Centre (CHRC), NOVA Medical School, (NMS), Faculdade de Ciências Médicas (FCM), Universidade Nova de Lisboa, 1169-056 Lisboa, Portugal
Romani C:
College of Health and Life Sciences, Psychology Department, Aston University, UK
Trefz F:
Center for Metabolic Diseases Tuebingen, Paul-Ehrlich-Straße 23, 72076 Tübingen, Germany
van Spronsen FJ:
Division of Metabolic Diseases, University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, the Netherlands
Green Accepted, Green Submitted, Green Published, hybrid
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