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Pathophysiology and diagnosis

Pathophysiology and diagnosis
  • Endocrinology and metabolism


26 February 2014



Course Introduction


This online course introduces you to a rare metabolic disorder known as phenylketonuria. It covers the brief history of the discovery of phenylketonuria, its clinical symptoms and signs and the biochemical mechanisms of its development. The course also discusses the basic principles of the diagnosis as well as classification and differentiation of phenylketonuria.

Learning objectives

The learning objective of this course is to learn more about:

  • History of phenylketonuria
  • Epidemiology of phenylketonuria
  • Phenylalanine metabolism
  • Phenylalanine metabolism in phenylketonuria
  • Genetics of phenylketonuria
  • Mechanisms of organ damages
  • Clinical symptoms and signs
  • Diagnosis and differential diagnosis

CME accreditation

This course is submitted for CME accreditation from the European Accreditation Council for Continuing Medical Education (EACCME).

CME credits for this course are still pending. The download of your CME certificate is, therefore, not possible yet. We will inform you by e-mail as soon as the accreditation has been approved.


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.

Prof. Francjan van Spronsen

Francjan J van Spronsen received his MD in 1987 and combined research and clinical work for the section of metabolic diseases of the Beatrix Children’s Hospital of the Academic Hospital of Groningen till 1992, when he started his training to become a general pediatrician. He received his PhD in 1996 after defending his thesis entitled ’Phenylketonuria: implications of some biochemical and clinical findings‘. From 1997 till 1999 he was a general pediatrician and supervisor at two clinical units of the Beatrix Hospital in the University Hospital of Groningen and a consultant for neuromuscular diseases. From 1999 onwards, he joined the metabolic section as pediatrician metabolic disease treating patients from 0 to 70 years of age. From 2001 till 2007 he was coordinator of two different studies about medical students, and he now combines clinical experience with management on education of MD students, and chairing of the exam committee for MD students of the University of Groningen. He is a member of various education committees for medical students and pediatricians. At a national level, he is a member of the Dutch organisation for physicians and biochemists working on metabolic diseases, and chairs the Advisory Committee on Neonatal Screening with respect to inherited metabolic diseases, and is a member of the Dutch Committee on Neonatal Screening. At an international level he is a member of the Society for the Study of Inborn Errors of Metabolism, he chairs the Scientific Advisory Board of the European Society of PKU and allied disorders, and chairs various European and international advisory boards and working groups on inborn errors of metabolism. His major research topics and peer reviewed papers are especially on metabolic and cerebral processes in inherited defects of amino acids (e.g. phenylketonuria, tyrosinemia type I). His working address is the Beatrix Children’s Hospital of the University Medical Centre of Groningen, University of Groningen, The Netherlands.

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.

The following faculty indicated no significant commercial relationships and/or discussions of investigational or non- EMEA/FDA approved (off-label) uses of drugs:

Nenad Blau and Francjan van Spronsen