CME Live Webinar

Advances in PKU management: Current and future options

7 November 2025
from 13.30 to 17.00 CET

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Overview

Disruption of phenylalanine metabolism results in especially high phenylalanine concentrations, which, if untreated, results in severe intellectual disability, epilepsy and behavioural problems (van Spronsen, 2021). Newborn screening is key to early diagnosis of phenylketonuria (PKU), followed by lifetime phenylalanine restriction. Advances in nutritional treatment of PKU, as well as new treatments currently undergoing clinical trials will be discussed during this webinar. The mechanisms of PKU neurotoxicity and how to prevent them, and the development of phenylalanine tolerance in patients will be explored. Advances in genetic research has revealed how different variants in the PAH gene impact the severity of an individual’s PKU [Hillert, 2020], and has emphasized the importance of personalized treatment. Individualized care for patients will also be explored in the context of personal health – providing guidance for lifestyle choices, predominantly exercise and diet, as those with PKU may be prone to obesity and subsequent health conditions. This support is particularly crucial for women and girls with PKU as they navigate adolescence, pregnancy and menopause. This webinar will focus on current and future treatments for PKU, and also address some of the underlying metabolic and neurological problems associated with phenylalanine dysfunction.

Learning Objectives

After attending this live webinar, participants will be able to:

  • 1. Understand how variants in the PAH gene impact the severity of an individual’s PKU
  • 2. Recognize mechanisms of neurotoxicity in PKU
  • 3. Understand the range of comorbidities in patients with PKU
  • 4. Identify the need for personalized nutritional care with the use of adjunct drug treatment in PKU
  • 5. Evaluate selected aspects of health at different periods of life in women with PKU
  • 6. Identify new therapeutic options for patients with PKU and how to judge their clinical impact

Target Audience

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.

Language

The official language of this educational programme is English.

Continuing Medical Education
(CME)

The Advances in PKU management: Current and future options, Virtual, Italy 07/11/2025 – 07/11/2025, has been accredited by the European Accreditation Council for Continuing Medical Education (EACCME®) with 3.0 European CME credits (ECMEC®s). Each medical specialist should claim only those hours of credit that he/she actually spent in the educational activity.

Through an agreement between the Union Européenne des Médecins Spécialistes and the American Medical Association, physicians may convert EACCME® credits to an equivalent number of AMA PRA Category 1 CreditsTM. Information on the process to convert EACCME® credit to AMA credit can be found at https://edhub.ama-assn.org/pages/applications.

Live educational activities, occurring outside of Canada, recognised by the UEMS-EACCME® for ECMEC®s are deemed to be Accredited Group Learning Activities (Section 1) as defined by the Maintenance of Certification Program of the Royal College of Physicians and Surgeons of Canada.

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The content of the Advances in PKU management: Current and future options has been certified by the CPD Certification Service as conforming to continuing professional development principles.

CME provider

MedEA Medical Education Academy

Senior Educational Programme Director: Flaminia Masprone

T 39 02 8295 8658

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CME Live Webinar

Advances in PKU management: Current and future options

Friday, 7 November 2025

Faculty

Kirsten Kiær Ahring

Kirsten Kiær Ahring

Metabolic Dietitian
Center for PKU
Copenhagen University Hospital
Copenhagen, Denmark
Biography
Amaya Belanger-Quintana

Amaya Belanger-Quintana

Head of the Metabolic Diseases Unit
Pediatric Service
Ramón y Cajal University Hospital
University of Alcalá de Henares
National Reference Center for Hereditary Metabolic Diseases (C.S.U.R)
Madrid, Spain
Biography
Nenad Blau

Nenad Blau

Senior Consultant in Biochemical
Genetics University Children’s Hospital Zürich
Zürich, Switzerland
Biography
Maria Giżewska

Maria Giżewska

Head of the Department of Pediatrics, Rare Diseases and Metabolic Medicine
Pomeranian Medical University in Szczecin
Szczecin, Poland
Biography
Jerzy Giżewski

Jerzy Giżewski

Specialist in Obstetrics and Gynecology
Szczecin, Poland
Biography
Cary O. Harding

Cary O. Harding

Professor of Molecular and Medical Genetics, School of Medicine
Molecular and Medical Genetics Graduate Program, School of Medicine
Program in Molecular and Cellular Biosciences, School of Medicine
OHSU Hospital and St. Luke's Boise Medical Center
Portland (OR), USA
Biography
Anita MacDonald

Anita MacDonald

Consultant Dietitian
Inherited Metabolic Disorders
Birmingham Children’s Hospital
Birmingham, UK and
Honorary Professor in Dietetics
Plymouth University, UK
Biography
François Maillot

François Maillot

Professor of Internal Medicine and
Head of the Department of Internal Medicine
University Hospital of Tours, France
Biography
Ania C. Muntau

Ania C. Muntau

Director of the University Children’s Hospital
University Medical Center Hamburg-Eppendorf (UKE) and
Site Director of the German Center for Child and Adolescent Health
Hamburg, Germany
Biography

Agenda

AGENDA

Final Programme

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FUNDING

· Martin O. Savage ·

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.

· Kirsten Kiær Ahring ·

Kirsten Ahring has worked with PKU since 1997 at the National PKU Clinic in Denmark. The clinic treats all PKU patients living in Denmark, Greenland, and the Faroe Islands, at total of 520, where around 50 of them are late-diagnosed, born before screening was implemented.  She is a metabolic dietitian, RD, and has completed a M.Sc. in Human Nutrition and a Ph.D. in clinical genetics (PKU). She has worked in research-labs in Canada and Saudi Arabia. She is a member of several advisory boards and the Scientific-Advisory-Board under the ESPKU. She is also an active member of the Danish PKU organization, where she serves as a scientific representative.

· Amaya Bélanger Quintana ·

Amaya Bélanger-Quintana studied Medicine at the Universidad Autónoma and did her Pediatric residency at the Hospital Universitario Ramón y Cajal in Madrid, Spain. The Metabolic Unit of this hospital is of National and European reference, and she soon became interested in the field, working with them as an investigation fellow and soon after as full-time Paediatrician. Since 2015 she is the Head of the Metabolic Unit, which includes both paediatricians and adult specialists. She has worked mainly on aminoacid disorders, especially on PKU, developing her doctoral degree on this disease. She is a Pediatrics Professor at the Universidad de Alcalá de Henares, and also gives classes and doctorate courses for other universities and national and international meetings. She is a member of several national and international inborn errors of metabolism scientific advisory boards for both public and private institutions and has published extensively.

· Nenad Blau ·

Nenad Blau is a Senior Consultant in Biochemical Genetics at the University Children’s Hospital of Zürich, Switzerland and served in the same function at the Children’s Hospital in Heidelberg, Germany from 2011-2019. He was the Head of the Laboratory for Tetrahydrobiopterin and Neurotransmitter Diseases at the University Children’s Hospital in Zürich, Switzerland, where his research group discovered several inborn errors of metabolism, including GTPCH, PCD and SR deficiencies. He established and curates the phenylalanine hydroxylase (PAH) locus-specific database, BIOPKU database of phenylketonuria (PKU) genotypes, database of tetrahydrobiopterin (BH4) deficiencies and the PNDdb database of mutations causing pediatric neurotransmitter disorders (www.biopku.org). With colleagues from Vancouver (BC, Canada), he developed the IEMbase, an online knowledgebase and diagnostic tool for inborn errors of metabolism (www.iembase.org). His current research focuses on epidemiology, population genetics, genotype-phenotype correlation, and genotypic phenotype prediction in PKU and other inherited metabolic diseases.

Prof. Blau is an honorary member of the Italian Society for Pediatrics. In 2001, he received the Horst­ Bickel-Award, in 2005 the Gowland Hopkins Award and in 2011 the Asbjørn Følling Award for his research in the field of tetrahydrobiopterin and PKU.

Prof. Blau is author of more than 500 research publications and 12 books, including the standard textbooks ‘Physician’s Guide to the Diagnosis, Treatment and Follow-up of Inherited Metabolic Diseases’ and ‘Laboratory Guide to the Methods in Biochemical Genetics’

· Maria Giżewska ·

Maria Giżewska graduated from and works at the Pomeranian Medical University in Szczecin, Poland. She started at the Department of Biochemistry and in 1987 she joined the Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology where she holds a position of Vice-Head. Professor Giżewska has a specialization in general pediatrics and pediatric metabolism and is a consultant on inborn errors of metabolism for the Region of West Pomerania, Poland. Since the mid-nineties, her research has been focused on early diagnosis and treatment of patients with different types of inborn errors of metabolism, including phenylketonuria. She was involved in the development of the first European Guidelines on the Diagnosis and Management of Phenylketonuria which were published in 2017 in The Lancet, Diabetes and Endocrinology and in the Orphanet Journal of Rare Diseases. At the moment, she is coauthoring the second edition of the Guidelines. Professor Giżewska is the author of over 120 publications in both Polish and international journals (Impact Factor 169,34, Hirsch index 16, citations number 1237 – Web of Science) on inborn errors of metabolism, general pediatrics, pediatric endocrinology, neurology and genetics. She was trained in Denmark, Italy, Great Britain, Qatar, USA and Japan.  Phenylketonuria and other inborn errors of metabolism were the subjects of her lectures given in many European countries, USA and Canada, South America, China, Japan, Australia and in the Middle East. On many occasions she was the presenter at the Metabolic University at Colorado Children’s Hospital in Denver where her lectures focused on phenylalanine neurotoxicity and untreated adults with phenylketonuria as well as inborn errors of metabolism with intoxication syndrome. From 2011 to 2021 professor Giżewska with her German partners (Universities in Greifswald and Medical University Charitè in Berlin) carried out two European Union transborder projects (Program Interreg IVA and VA) dedicated to the creation of Polish-German newborn screening programs aimed to early detection of newborns with rare genetic conditions, including inborn errors of metabolism, endocrinological disorders, cystic fibrosis and recently, severe combined immunodeficiencies (SCID). At the moment, she is a promotor of the National Center of Science grant:  Does a life-long low-phenylalanine diet have an impact on renal function in patients with phenylketonuria? Professor Giżewska is a member of SSIEM, ISNS, Polish Pediatric Societies, Polish Society of Pediatric Endocrinology and Polish Society of Inborn Errors of Metabolism. She is also a vice-chair of Polish Society of Phenylketonuria and a vice-chair of ESPKU Scientific Advisory Committee.

· Jerzy Giżewski ·

Dr Jerzy Giżewski is a specialist in obstetrics and gynaecology from Szczecin, Poland.
For many years, he served as a senior consultant and faculty member at the Department of Gynaecology and Obstetrics, Pomeranian Medical University in Szczecin. With decades of clinical and academic experience, he has developed particular expertise in gynaecological endocrinology, infertility diagnosis and treatment, antenatal care, and advanced gynaecological and obstetric ultrasonography. His professional focus also includes comprehensive care for women during the menopausal transition and in older age. He contributed as an external expert in gynaecology and obstetrics during the development of the European Guidelines for the Diagnosis and Treatment of Phenylketonuria (2017), offering valuable insights into female reproductive health in the context of PKU. Dr Giżewski is a frequent speaker at patients meetings dedicated to the care of women with phenylketonuria. His lectures address key issues across the female life span, including puberty, reproductive planning, pregnancy, postpartum care, and menopause. His work continues to bridge gynaecology and metabolic medicine, advancing care for women with rare inherited disorders, especially PKU.

· Cary O. Harding ·

Cary O. Harding is Professor of Molecular and Medical Genetics and Pediatrics at Oregon Health & Science University (OHSU). He received his medical degree from the University of Washington followed by pediatric and medical genetics training at the University of Wisconsin-Madison. He is board certified in Clinical Genetics and Clinical Biochemical Genetics. Dr. Harding is a founding fellow of the American College of Medical Genetics and Genomics (ACMGG) and a member of the American Society for Cell and Gene Therapy (ASGCT) and Society for the Study of Inborn Errors of Metabolism (SSIEM). He is the treasurer of the Society for Inherited Metabolic Disorders (SIMD). He is an attending physician in the metabolic clinic at Doernbecher Children’s Hospital and the Medical Director of the Biochemical Genetics Lab at OHSU. He is also a clinical consultant to the Northwest Regional Newborn Screening Program. He serves as co-chair of the Scientific Advisory Board for the National PKU Alliance (NPKUA) and as the Project Director for the PHEFREE Rare Disorders Consortium. Dr. Harding’s basic and clinical research programs are focused upon the development of novel therapies, including gene and cell therapies, for inborn errors of metabolism.

· Anita MacDonald ·

Anita MacDonald OBE is Consultant Dietitian in Inherited Metabolic Disorders at Birmingham Children’s Hospital, and an Honorary Professor in Dietetics at Plymouth University, UK. Although she semi-retired 6 years ago, she is even more involved in PKU work, concentrating solely on this group as well as doing some voluntary work for the National Society for PKU (NSPKU). Her involvement in inherited metabolic disorders (IMD) has spanned almost all her working life (>40 years). Dr MacDonald obtained her PhD in phenylketonuria (PKU) in 1999. She has directly cared for over 400 patients with PKU. She has always been involved in PKU research, supervises PhD students, Master students and lectures worldwide on PKU.  She has around 450 publications – many are research publications on PKU. She is a member of the European PKU Guidelines group (which is aiming to standardise PKU care across Europe), is a member of ESPKU Scientific Advisory Committee, and member of the UK NSPKU Medical Advisory Panel. The retirement slippers remain well and truly in their box!

· François Maillot ·

François Maillot is Professor of Internal Medicine at the University of Tours, France. He is Head of the Department of Internal Medicine which is part of Reference center for Inherited Metabolic Disease (IMD) at the University Hospital in Tours, France. Professor Maillot is involved in the care and treatment of adult patients with IMD. He has publications for primary research across a wide array of IMD. Among his research activities, he has studied and published papers about adult and maternal phenylketonuria (PKU). He is the principal investigator of the French cohort study of adults with PKU (ECOPHEN study). Professor Maillot is the vice president of the French National Society for the Study of Inborn Errors of Metabolism (SFEIM) and member of the International Society for the Study of IEM (SSIEM), and has been involved in the European PKU guidelines working group since 2012.

· Ania C. Muntau ·

Ania Carolina Muntau is Director of the University Children’s Hospital at the University Medical Center Hamburg-Eppendorf (UKE) and Site Director of the German Center for Child and Adolescent Health in Hamburg. She is a leading authority in pediatric metabolic medicine, with internationally recognized expertise in rare inherited diseases, protein misfolding, and innovative pharmacological therapies. She studied medicine at Ludwig Maximilians University (LMU) in Munich, where she also completed her doctorate and training in pediatrics, biochemical genetics, and molecular biology. After heading the Departments of Molecular Pediatrics and Inborn Errors of Metabolism at LMU, she was appointed Chair of the University Children’s Hospital in Hamburg in 2014. Her research has significantly advanced the understanding and treatment of phenylketonuria (PKU) and related disorders. She has served as principal investigator and international coordinator in numerous multicenter clinical studies, including pivotal trials on sapropterin dihydrochloride, pegvaliase  and sepiapterin. In addition, she coordinated pediatric COVID-19 health investigations in Hamburg and continues to lead major phase 3 trials in metabolic diseases. Prof. Muntau’s scientific contributions have been honored with the Adelbert Czerny Award, the Therese von Bayern Award, and election to the German National Academy of Sciences Leopoldina. She is also a committed educator, actively engaged in curriculum reform, faculty development, and international mentoring programs.

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