The complete European guidelines on phenylketonuria: diagnosis and treatment.
Por:
van Wegberg AMJ, MacDonald A, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol-Plana J, Feillet F, Gizewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, van Rijn M, Trefz F, Walter JH and van Spronsen FJ
Publicada:
12 oct 2017
Ahead of Print:
12 oct 2017
Resumen:
Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine. If left untreated, PKU results in increased phenylalanine concentrations in blood and brain, which cause severe intellectual disability, epilepsy and behavioural problems. PKU management differs widely across Europe and therefore these guidelines have been developed aiming to optimize and standardize PKU care. Professionals from 10 different European countries developed the guidelines according to the AGREE (Appraisal of Guidelines for Research and Evaluation) method. Literature search, critical appraisal and evidence grading were conducted according to the SIGN (Scottish Intercollegiate Guidelines Network) method. The Delphi-method was used when there was no or little evidence available. External consultants reviewed the guidelines. Using these methods 70 statements were formulated based on the highest quality evidence available. The level of evidence of most recommendations is C or D. Although study designs and patient numbers are sub-optimal, many statements are convincing, important and relevant. In addition, knowledge gaps are identified which require further research in order to direct better care for the future.
Filiaciones:
van Wegberg AMJ:
Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, PO BOX 30.001, 9700 RB, Groningen, The Netherlands
MacDonald A:
Dietetic Department, Birmingham Children's Hospital, Birmingham, UK
Ahring K:
Department of PKU, Kennedy Centre, Glostrup, Denmark
Bélanger-Quintana A:
Metabolic Diseases Unit, Department of Paediatrics, Hospital Ramon y Cajal Madrid, Madrid, Spain
Blau N:
University Children's Hospital Zürich, Zürich, Switzerland
Bosch AM:
Department of Paediatrics, Division of Metabolic Disorders, Academic Medical Centre, University Hospital of Amsterdam, Amsterdam, The Netherlands
Burlina A:
Division of Inherited Metabolic Diseases, Department of Paediatrics, University Hospital of Padova, Padova, Italy
Campistol-Plana J:
Neuropaediatrics Department, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain
Feillet F:
Department of Paediatrics, Hôpital d'Enfants Brabois, CHU Nancy, Vandoeuvre les Nancy, France
Gizewska M:
Department of Paediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology of the Developmental Age, Pomeranian Medical University, Szczecin, Poland
Huijbregts SC:
Department of Clinical Child and Adolescent Studies-Neurodevelopmental Disorders, Faculty of Social Sciences, Leiden University, Leiden, The Netherlands
Kearney S:
Clinical Psychology Department, Birmingham Children's Hospital, Birmingham, UK
Leuzzi V:
Department of Paediatrics, Child Neurology and Psychiatry, Sapienza University of Rome, Via dei Sabelli 108, 00185, Rome, Italy
Maillot F:
CHRU de Tours, Université François Rabelais, INSERM U1069, Tours, France
Muntau AC:
University Children's Hospital, University Medical Centre Hamburg-Eppendorf, 20246, Hamburg, Germany
van Rijn M:
Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, PO BOX 30.001, 9700 RB, Groningen, The Netherlands
Trefz F:
Department of Paediatrics, University of Heidelberg, Heidelberg, Germany
Walter JH:
Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK
van Spronsen FJ:
Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, PO BOX 30.001, 9700 RB, Groningen, The Netherlands.
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