User login

We offer our registered users tailored information, free online courses and exclusive content.

You have an old EXCEMED account ...

Our platform has been renewed. All users registered at any of the old websites are kindly requested to reset their password. Why is this?

... or you lost your password?

This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.

PKU Academy Advanced Course - Pharmacological treatment

PKU Academy Advanced Course - Pharmacological treatment
  • Endocrinology and metabolism


21 August 2014

Course introduction

Pharmacological treatment of PKU

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 seven-chapter online course is to introduce the concept of pharmacological treatments for  PKU, beginning with the rationale which encouraged many scientist and researcher to seek for molecules, before reviewing the current lines of research and the study outcomes before suggesting how PKU management can be optimized, and the possible opportunities for pharmacological treatment. An overview of future trends in research in this field will also be provided.  

Learning objectives

  • Following this advanced online course, these learning objectives will be reached:
  • Acquire the rationale and the research background of pharmacological treatments  for PKU 
  • Know the results of studies where drugs indicated in PKU have been tested 
  • Be able to optimise PKU management, including drugs in the treatment protocols 

Certificate of completion

Successful completion of this course entitles you to EXCEMED’s  certificate of completion


Dr Amaya Bélanger Quintana

Amaya Bélanger Quintana, PhD, is a pediatrician at the Hospital Ramón y Cajal of Madrid and has also frequent teaching collaborations with the Universidad de Alcalá de Henares both in the undergraduate and graduate levels. She has received her PhD degree (summa cum laude) with thesis entitled: “Advances in the diagnosis, treatment and follow-up of patients with phenylalanine hydroxylase deficiency”. Dr Bélanger Quintana has been working in the field of Inborn Errors of Metabolism for 10 years. She is a member of the Spanish Association for the study of Congenital Errors of Metabolism, the Spanish Pediatricians Society for Inborn Errors of Metabolism, the European PKU Scientific Advisory Board and the European PKU Nutritionists Advisory Board. In addition, she was a collaborator in one local and two multicenter international studies on PKU in the last 5 years.

Prof. Dr. med. Friedrich Trefz

Friedrich Trefz received his medical degree from the University of Heidelberg in 1976. After receiving his degree he remained at the University Children’s Hospital of Heidelberg, working under Prof. Horst Bickel. In 1983 he received his degree in Paediatrics; later in 2009 he received an additional degree in Paediatric Diabetes and Endocrinology. In 1985 he became the head of the “Sektion Pädiatrische Stoffwechselkrankeheiten” at the University Children’s Hospital of Heidelberg.
Prof. Dr. med. Trefz has received many grants from the German Federal Ministry of Education and Research and was the principal German researcher in the International Sapropterin Study from 2005 to 2007. Between 1992 and 2010 he was head of the Klinik für Kinder und Jugendmedizin at the University of Tuebingen, Reutlingen School of Medicine, University of Tuebingen. In 2010 he retired from the University of Tuebingen and is now a paediatrician at an outpatient medical centre for Women, Children and Adolescents in Reutlingen, Germany.

Faculty disclosure

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.

The following faculty provided information regarding significant commercial relationships and/or discussions of investigational or non-EMEA/FDA approved (off-label) uses of drugs:

Amaya Bélanger-Quintana declared receipt of honoraria or consultation fees from Mead Johnson, SHS and Cassen and to be member of Merck Serono PKU advisory board, Nutritional expert panel and Kamper advisory board.

Friedrich-Karl Trefz declared receipt of honoraria or consultation fees as member of the European PKU advisory board.