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Optimizing PKU Treatment by Assessment of Sapropterin (BH4) Responsiveness

Optimizing PKU Treatment by Assessment of Sapropterin (BH4) Responsiveness
  • Endocrinology and metabolism


26 February 2014

Course Introduction


This presentation introduces the key concepts of pharmacological treatment of PKU and shows how pharmacological treatment fits into the management of PKU patients. The presentation also examines the stratification of patients, and the methods that can be used to assess responsiveness and to adapt treatment.

Learning objectives

To improve knowledge on the:

  • Introduction of pharmacological therapy in the complex PKU management
  • Impact of different factors on BH4 responsiveness results
  • Key considerations of BH4 responsiveness testing and implications for clinical practice
  • Underlying mechanisms that drive BH4 responsiveness
  • Key differences between different BH4 responsiveness testing protocols


Prof. Nenad Blau 

Professor Nenad Blau, PhD, is head of the laboratory for the diagnosis of tetrahydrobiopterin and neurotransmitter disorders at the University Children's Hospital in Zürich, Switzerland. He is a senior lecturer in biochemistry and metabolic disorders at the University of Zürich and author/senior editor of more than 200 research publications, including the standard books Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases, Physician's Guide to the Treatment and Follow-up of Metabolic Diseases and Laboratory Guide to the Methods in Biochemical Genetics. He is an honorary member of the Italian Society for Pediatrics. He is a curator of several metabolic databases like BIODEF or BIOPKU ( For his research in the field of tetrahydrobiopterin and phenylketonuria he received in 2001 the Horst-Bickel Award and in 2005 he was honored by the Gowland Hopkins Award.

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.

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.