The complete European guidelines on phenylketonuria: diagnosis and treatment.

A M J van Wegberg, A MacDonald, K Ahring, A Bélanger-Quintana, N Blau, A M Bosch, A Burlina, J Campistol, F Feillet, M Giżewska, S C Huijbregts, S Kearney, V Leuzzi, F Maillot, A C Muntau, M van Rijn, F Trefz, J H Walter, F J van Spronsen

Journal: Orphanet journal of rare diseases 2018;12(1):162

PMID: 29025426

Free Full Text on BioMed Central View on PubMed

Abstract

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.

Address: Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, PO BOX 30.001, 9700 RB, Groningen, The Netherlands.; Dietetic Department, Birmingham Children's Hospital, Birmingham, UK.; Department of PKU, Kennedy Centre, Glostrup, Denmark.; Metabolic Diseases Unit, Department of Paediatrics, Hospital Ramon y Cajal Madrid, Madrid, Spain.; University Children's Hospital, Dietmar-Hoppe Metabolic Centre, Heidelberg, Germany.; University Children's Hospital Zürich, Zürich, Switzerland.; Department of Paediatrics, Division of Metabolic Disorders, Academic Medical Centre, University Hospital of Amsterdam, Amsterdam, The Netherlands.; Division of Inherited Metabolic Diseases, Department of Paediatrics, University Hospital of Padova, Padova, Italy.; Neuropaediatrics Department, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain.; Department of Paediatrics, Hôpital d'Enfants Brabois, CHU Nancy, Vandoeuvre les Nancy, France.; Department of Paediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology of the Developmental Age, Pomeranian Medical University, Szczecin, Poland.; Department of Clinical Child and Adolescent Studies-Neurodevelopmental Disorders, Faculty of Social Sciences, Leiden University, Leiden, The Netherlands.; Clinical Psychology Department, Birmingham Children's Hospital, Birmingham, UK.; Department of Paediatrics, Child Neurology and Psychiatry, Sapienza University of Rome, Via dei Sabelli 108, 00185, Rome, Italy.; CHRU de Tours, Université François Rabelais, INSERM U1069, Tours, France.; University Children's Hospital, University Medical Centre Hamburg-Eppendorf, 20246, Hamburg, Germany.; Department of Paediatrics, University of Heidelberg, Heidelberg, Germany.; Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.; Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, PO BOX 30.001, 9700 RB, Groningen, The Netherlands. [email protected].

DOI: 10.1186/s13023-017-0685-2

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MeSH Terms: Europe, Humans, Phenylketonurias, Practice Guidelines as Topic