The complete European guidelines on phenylketonuria: diagnosis and treatment 1.0.0

Alexander Hennig -

Published by Orphanet Journal of Rare Diseases

This site uses cookies. By continuing to browse this site, you are agreeing to our Cookie Policy.

Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism causedby deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine. If leftuntreated, PKU results in increased phenylalanine concentrations in blood and brain, which cause severeintellectual disability, epilepsy and behavioural problems. PKU management differs widely across Europe andtherefore these guidelines have been developed aiming to optimize and standardize PKU care. Professionalsfrom 10 different European countries developed the guidelines according to the AGREE (Appraisal ofGuidelines for Research and Evaluation) method. Literature search, critical appraisal and evidence gradingwere 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 theguidelines. Using these methods 70 statements were formulated based on the highest quality evidenceavailable. The level of evidence of most recommendations is C or D. Although study designs and patientnumbers are sub-optimal, many statements are convincing, important and relevant. In addition, knowledgegaps are identified which require further research in order to direct better care for the future.

A. M. J. van Wegberg1, A. MacDonald2, K. Ahring3, A. Bélanger-Quintana4, N. Blau5,6, A. M. Bosch7, A. Burlina8, J. Campistol9, F. Feillet10, M. Giżewska11, S. C. Huijbregts12, S. Kearney13, V. Leuzzi14, F. Maillot15, A. C. Muntau16, M. van Rijn1, F. Trefz17, J. H. Walter18 and F. J. van Spronsen1*
  • Version 1.0.0

    - 14.28 MB - 6 times downloaded