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Through dietary restrictions, quality of life and life achievements increase for those born with PKU. Research is still needed to fully understand the mechanisms of PKU neurotoxicity and how to prevent them. There are little data on the life-long phenylalanine tolerance of patients (MacDonald, 2011), although it is known that the amino acid profiles of patients with PKU differ significantly from those in healthy peers, with potential clinical implications (Matuszewska, 2024). There is conflicting evidence that those with PKU may be prone to obesity and consequently hypertension, although this is difficult to pinpoint precisely due to the rise of levels of obesity in the population generally. Tied in with obesity is the need for life-style support for those with PKU – diet and exercise to manage and maintain good health and longevity, as well as support for women with PKU as they navigate adolescence, pregnancy and menopause.
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.
Júlio César Rocha is a Professor of Nutrition and Metabolism, graduated in Nutritional Sciences (0438N – specialist in Clinical Nutrition), with a post graduate qualification in Clinical Nutrition from the Faculty of Nutrition and Food Sciences – University of Porto (UP) and he has also a PhD in Metabolism, at the Faculty of Medicine, UP. He has been working in the field of inborn metabolic diseases since 2003. He is Professor of Nutrition and Metabolism at NOVA Medical School teaching in the field of Nutrition and Metabolism to Medicine and Nutrition students. He is also member of the multidisciplinary clinical team at the Reference Centre of Inherited Metabolic Diseases at Unidade Local de Saúde São José, one of the 5 Portuguese Reference Centres for the follow-up of patients with Inherited Metabolic Diseases. He is also a researcher at Comprehensive Health Research Centre (CHRC) and Center for Health Technology and Services Research (CINTESIS). He is council member of the SSIEM (Society for the Study of Inborn Errors of Metabolism), Member of the Dieticians Group of the SSIEM (SSIEM-DG) and President of the Portuguese Society of Clinical Nutrition and Metabolism (SPNCM). He is also member of the working group of the European Phenylketonuria Guidelines (EPG 2.0) under the umbrella of the ESPKU. He is author of more than 80 international, indexed, scientific publications and he has done more than 100 oral presentations/lectures/conferences in more than 13 different countries.
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