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The complete European guidelines on phenylketonuria: diagnosis and treatment.

Authors :
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, F.
Walter, J. H.
van Spronsen, F. J.
Source :
Orphanet Journal of Rare Diseases; 10/12/2017, Vol. 12, p1-56, 56p
Publication Year :
2017

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. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
17501172
Volume :
12
Database :
Complementary Index
Journal :
Orphanet Journal of Rare Diseases
Publication Type :
Academic Journal
Accession number :
125663248
Full Text :
https://doi.org/10.1186/s13023-017-0685-2