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Clinical management of phenylketonuria

Clinical management of phenylketonuria
  • Endocrinology and metabolism



Course Introduction


For many decades the only therapeutic approach to phenylketonuria (PKU) was diet. Although there has been continuous improvement in management of PKU through diet, and it has been efficacious in many patients, there have remained many problems, usually associated with the life-long limitations of individual habits: lack of adherence, drop out from management, etc. The inadequacies of managing PKU by diet alone has stimulated scientists to search for pharmacological solution that could either replace dietary control,  or could be combined with it, in order to widen therapeutic alternatives and improve management.

The aim of this online course is to introduce the concept of treatment strategies for PKU, beginning with a summary of the “Pathophysiology and diagnosis of PKU” from the 1st online course. Then treatments will be discussed, beginning with diet and then the separate treatments available, including medical therapies, gene, enzyme and cell therapies. Suggestions on how PKU management can be optimized, and the possible opportunities for pharmacological treatment will also be discussed. Furthermore, an overview of future trends in research in this field will be provided.

Learning objectives

By completing this online course, the following learning objectives will be reached:

  • Acquire knowledge on dietary restrictions for PKU
  • Know the different therapies available to treat PKU patients
  • Be able to optimize PKU clinical management, including diet and treatment

CME accreditation

The course is accredited by the European Accreditation Council for Continuing Medical Education (EACCME) for 1 European CME credit (ECMEC).


Dr. Margreet van Rijn 

After certification as dietician her professional career started at the University Medical Hospital of Groningen where she continues to work to this day. Being involved in different departments of the hospital, from 1980 onwards the focus narrowed to paediatrics, which became the most important part of her activities. Metabolic diseases offered great chances to get involved in high tech dietetics. The forum of information exchange expanded from national to international contacts and also became progressively more disease specific. Experience in clinical practice does not constitute scientific evidence, but rather is the source of research questions. The next step was a part time research project, resulting in her PhD titled “From experience to evidence”. Nowadays she is active as a clinical and research dietician, focussed on paediatrics and especially metabolic diseases for all age groups, with special interest and expertise in Phenylketonuria and Glycogen Storage Diseases. She is also involved in national and international educational activities and working groups for metabolic dieticians and clinicians.

Dr. Hulya Gokmen-Ozel

Dr. Hulya Gokmen-Ozel, Associate Professor in Nutrition and Dietetics at Hacettepe University, is a paediatric dietician. She received her MSc in 1998 and PhD in 2004. Between 2008 and 2009 she attended several research and development projects in the field of inherited metabolic diseases at Birmingham Children’s Hospital. She was awarded a grant by The Scientific Technical Research Council of Turkey as a postdoctoral fellow in PKU. She is now involved in teaching and training activities of the dietetic students and patients/families. She is a member of numerous national committees, the Society for the Study of Inborn Errors of Metabolism (SSIEM), SSIEM Dietitians Group Steering Committee and European Expert Panel in PKU. Her main aim is to improve dietetic management of the patients with inherited metabolic diaseases in Turkey.  

Prof. François Feillet 

Paediatrician Metabolic Diseases, Reference centre for Inborn Errors of Metabolism, Children's Hospital, University Hospital of Nancy, France

François Feillet received is MD in 1990 and has been paediatrician since 1992. He received his PhD on metabolic consequences of malnutrition in 2000. He is professor of Paediatrics since 2003.He was paediatric intensivist for 13 years and is now the head of one of the six national reference centres for Inborn Errors of Metabolism in France. He treats patients with metabolic diseases from birth to adulthood.

At a national level, Pr Feillet is a member of the Human Nutrition committee of AFSSA (French Agency for the Security and Safety of Foods), he is a member of the national society for systematic newborn screening, he is a President of the national board of the French Society for IEM and a member of the national scientific committee of the French Society of Paediatrics. At an international level, he is a member of various European and international advisory boards and working groups on both phenylketonuria and others metabolic disorders.

Faculty disclosure

Disclosure of faculty relationships

EXCEMED adheres to guidelines of the European Accreditation Council for Continuing Medical Education (EACCME) and all other professional organizations, as applicable, which state that programs awarding continuing education credits must be balanced, independent, objective, and scientifically rigorous. Investigative and other uses for pharmaceutical agents, medical devices, and other products (other than those uses indicated in approved product labeling/package insert for the product) may be presented in the program (which may reflect clinical experience, the professional literature or other clinical sources known to the presenter). We ask all presenters to provide participants with information about relationships with pharmaceutical or medical equipment companies that may have relevance to their lectures. This policy is not intended to exclude faculty who have relationships with such companies; it is only intended to inform participants of any potential conflicts so participants may form their own judgments, based on full disclosure of the facts. Further, all opinions and recommendations presented during the program and all program-related materials neither imply an endorsement, nor a recommendation, on the part of EXCEMED. All presentations solely represent the independent views of the presenters/authors.