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The complete European guidelines on phenylketonuria: diagnosis and treatment

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

In: Orphanet Journal of Rare Diseases, 12 (2017), Nr. 162. pp. 1-56. ISSN 1750-1172

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Download (14MB) | Lizenz: Creative Commons LizenzvertragThe complete European guidelines on phenylketonuria: diagnosis and treatment by van Wegberg, A. M. J. ; MacDonald, A. ; Ahring, K. ; Bélanger-Quintana, A. ; Blau, N. ; Bosch, A. M. ; Burlina, A. ; Campistol, J. ; Feillet, F. ; Giżewska, M. ; Huijbregts, S. C. ; Kearney, S. ; Leuzzi, V. ; Maillot, F. ; Muntau, A. C. ; van Rijn, M. ; Trefz, Friedrich Karl ; Walter, J. H. ; van Spronsen, F. J. underlies the terms of Creative Commons Attribution 3.0 Germany

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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.

Item Type: Article
Journal or Publication Title: Orphanet Journal of Rare Diseases
Volume: 12
Number: 162
Publisher: BioMed Central
Place of Publication: London
Date Deposited: 20 Oct 2017 12:30
Date: 2017
ISSN: 1750-1172
Page Range: pp. 1-56
Faculties / Institutes: Medizinische Fakultät Heidelberg > Universitätskinderklinik
Subjects: 610 Medical sciences Medicine
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