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?

Asbjørn Følling Lecture and award

Asbjørn Følling Lecture and award
  • Endocrinology and metabolism
  • Phenylketonuria (PKU)

Resource type

Article

friedrich trefz

The 2014 Asbjørn Følling Award was presented to Prof Friedrich Trefz1 who delivered this year’s Asbjørn Følling lecture.

Prof Trefz is a familiar figure in the international PKU community. He has been a key figure in a number of international studies that have furthered our understanding of maternal PKU and the use of BH4 therapy.

After receiving his medical degree from the University of Heidelberg in 1972 Prof Trefz specialized initially in biochemistry before training in pediatrics under Prof Horst Bickel. He became head of the Sektion Pädiatrische Stoffwechselkrankeheiten at the University Children’s Hospital of Heidelberg in 1985. From 1994-2002, he was one of the principal investigators of the International Maternal PKU study along with Prof Richard Koch and Prof Harvey Levy. He was the principal German investigator in the International sapropterin study from 2005 to 2007.

In 1992 he moved from Heidelberg to Reutlingen and became the head of the department of pediatrics at the Klinik für Kinder und Jugendmedizin at Klinikum am Steinenberg, Reutlingen, School of Medicine, University of Tübingen.

In 2010 he retired from the Children’s Hospital in Reutlingen and is now a pediatrician and medical director of the outpatient medical center for Women, Children and Adolescents, Kreiskliniken Reutlingen, in Gammertingen, Germany. He is still a professor of the University of Tübingen, Germany and continues to treat patients with metabolic disorders, focusing primarily on phenylketonuria and maternal phenylketonuria.

Prof Trefz began by looking back at key discoveries, some which were overlooked at the time they were first noted, which have subsequently led to new approaches in the treatment of PKU.

‘What we can learn from looking back, is how PKU became a model for diagnosis, prevention and treatment of an inborn error of metabolism’ stated Prof Trefz. ‘The detection of this disease by Dr Asbjørn Følling (1888—1973) shows us the importance of looking carefully at our patients. His finding is just a ‘case report’: two handicapped children in one family without special stigmata but with an unusual chemical reaction in urine.

‘Many questions are still open and this has made the 'PKU story' more attractive to basic researchers and clinicians today than it was 15 years ago. The answers to these questions are important for the treatment of our patients. I believe it will finally result in a personalized medicine. For example, one patient may benefit from BH4 treatment, the other not.

‘Health economic considerations may also play a role in our treatment decisions, and a better knowledge about vulnerable brain phases as in infancy, maternal PKU, the late treated patient and the 'elderly' PKU patient. In future, a careful clinical, biochemical and genetic investigation in every patient will be essential. Frequent monitoring of blood-Phe with fast feedback by dietitians and doctors via modern communication is essential. Patients’ treatment must be managed in a multidisciplinary specialized team.

‘PKU is a disease model for inborn errors of metabolism. History shows the progress on different diagnostic levels which we now call genomics, proteomics and metabolomics. Now we are beginning to understand the interactions of metabolite, protein and mutations in the gene.

'Only by continuing our close co-operation between different specializations within the field and by developing new computerized models and networks will we provide further rapid progress to help our patients.'

 

1 - Prof Friedrich K. Trefz (Children’s Hospital, Kreis Kliniken Reutlingen GmbH, Klinikum am Steinberg and School of Medicine, University of Tübingen Reutlingen, Germany)

Terms of use

This is a copyrighted resource for the sole purpose of education. Resource may be used for classroom training only and must remain as is, including the branding and EXCEMED logo. It is backed by a publishing license, signed by the author.

Target audience
Paediatricians, Dietitians, nutritionists, Scientists, Healthcare professionals
EACCME®
by Excemed
Endocrinology and metabolism