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In response to the wide variations in care of patients with PKU across European, European guidelines for PKU management were first developed in 2017 and aimed to optimize and standardize PKU care across the continent [van Wegberg, 2017]. Since this date, there has been further research into the condition, greater emphasis on personalization of treatment and new products have become available. These developments have been encapsulated in the second version of the European PKU Guidelines, due to be published during 2025. This podcast will explore some of the new recommendations in the guidelines, and explain how updated best practice should be implemented.
After listening to this podcast, participants should be able to:
Specialists in paediatric and adult inherited metabolic disorders, dietitians, nutritionists, clinical biochemists and geneticists, basic scientists, psychologists, gynaecologists and obstetricians, nurses and all healthcare professionals helping those with PKU.
The official language of this educational programme is English.
Podcast & Infographic
Martin Savage is Emeritus Professor of Paediatric Endocrinology at William Harvey Research Institute, Barts and the London School of Medicine & Dentistry, Queen Mary, University of London. He was head of the Paediatric Endocrine Unit at Barts and the London School of Medicine from 1982 to 2007. He has interests in growth disorders, specifically those with abnormalities in the GH-IGF-1 axis and in phenotype-genotype relationships of GH-IGF-1 axis defects, notably GH resistance. He published the first human case of an IGF-1 gene defect in the New England Journal of Medicine in 1996. His other interests are Cushing’s syndrome and growth in chronic inflammatory diseases. He was General Secretary of the European Society for Paediatric Endocrinology (ESPE) from 1997 to 2004. He has lectured in 60 countries and has published 482 original articles, reviews, textbook chapters and books. In 2007, he was awarded the ESPE Andrea Prader Prize for contributions to paediatric endocrinology and in 2018 he received a Visionary Award from the American Human Growth Foundation. In 2022, he received a Research Excellence Award from the Dr Sulaiman Al Habib Medical Journal in Riyadh, and the British Society of Paediatric Endocrinology & Diabetes James M. Tanner Lifetime Achievement Award. He continues to lecture nationally and internationally.
Francjan van Spronsen leads the Division of Inherited Metabolic Diseases (IMDs) as Professor in Paediatrics at the Beatrix Children’s Hospital, University Medical Centre of Groningen (UMCG)/University of Groningen in The Netherlands. He treats patients with IMDs from birth into adulthood. His research focus is on the pathogenesis and consequences of defects in amino acid metabolism and the relationships between diagnosis (heel prick), treatment modalities, metabolic control and neurocognitive outcomes, performing basic and translational research, and clinical studies, and contributing on guidelines such as for phenylketonuria (PKU), resulting in some 270 scientific papers. At a national level, he chairs the Advisory Committee on Newborn Screening with respect to IMDs, some scientific advisory boards for patients with specific diseases, has initiated the Dutch committee on quality assessment for protein substitutes and is a member of the Dutch Committee on Neonatal Screening. At an international level, he chairs the Scientific Advisory Board of the European Society of PKU and Allied Disorders, is a member of various advisory boards on diagnostics and therapies for IMDs, and working groups for various defects in amino acid metabolism. He chairs the European working group of professionals that has updated the European guidelines for PKU.
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