Anita MacDonald

Dr. Anita MacDonald

Birmingham Womens and Children's Hospital, NHS Trust, Birmingham UK

Research Focus & Metrics

Academic Career Length

10Years (2017-Present)

(Calculated once Scilit publication data is synced: current year − year of first publication + 1)

Representative Publications

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12 October 2017 in Orphanet Journal of Rare Diseases
Verified
Journal Article
Open access
PDF file
AWAnnemiek van Wegberg
Annemiek van Wegberg
AMAnita MacDonald
Anita MacDonald
KAK. Ahring
K. Ahring
ABAmaya Belanger-Quintana
Amaya Belanger-Quintana
NBNenad Blau
Nenad Blau
FSFrancjan J. Van Spronsen
Francjan J. Van Spronsen
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.