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2014 Annual Multidisciplinary European Phenylketonuria Symposium: PKU a lifetime of challenges

2014 Annual Multidisciplinary European Phenylketonuria Symposium: PKU a lifetime of challenges
  • Endocrinology and metabolism
  • Phenylketonuria (PKU)
Symposium by Excemed
Friday, Jun 6 - Saturday, Jun 7 2014
Zagreb, Croatia



Event format

Workshop session
Registration status


Phenylketonuria (PKU) is still a challenge for clinicians and researchers. Dietary restriction of phenylalanine (Phe) remains the main therapy, with some patients being suitable for medical treatment with sapropterin. Today’s research  is  focusing  on  the  pathophysiology  of  this  disease,  on  its neurocognitive impact, on its appropriate management and on possible new therapies.  Ongoing  work  by  many  scientists  is  leading  towards  the development of evidence-based European guidelines that will provide the best standard of care to all patients with PKU. This symposium will review the most important research achievements in this field, and provide a unique opportunity to share knowledge and best practice in the clinical management of PKU.

Learning objectives

After attending this live educational symposium, learners will have up-to- date knowledge about the latest developments in research and clinical management of PKU, and will be able to:

  • Evaluate challenges and solutions in the management of PKU, including diet and medical therapy, and possible future treatments
  • Interpret  the  pathophysiological  insights  into  the  disease  and  its neurocognitive repercussion on patients, and compare ways to counteract such events
  • Consider  the  best  approaches  for  management  of  special  clinical conditions, such as maternal PKU or transition age and adulthood
  • Discuss the development of European guidelines for the management and best care of PKU

Accreditation details

EXCEMED ( is accredited by the European Accreditation Council for Continuing Medical Education (EACCME ® ) to provide the following CME activity for medical specialists. The EACCME ® is an institution of the European Union of Medical Specialists (UEMS), The CME ‘2014 Annual Multidisciplinary European Phenylketonuria Symposium - PKU: a lifetime of challenges’ held on 6 – 7 June 2014 in Zagreb, Croatia, is designated for a maximum of 9 (nine) hours of European CME credits (ECMEC ® ). Each medical specialist should claim only those credits that he/she actually spent in the educational activity. EACCME ® credits are recognised by the American Medical Association (AMA) towards the Physician's Recognition Award (PRA). To convert EACCME ® credit to AMA PRA category 1 credit, please contact the AMA.

EXCEMED adheres to the principles of the Good CME Practice Group (gCMEp).

Additional information




Scientific programme

Friday 6 June

08.45 PKU in Croatia and southeastern European countries

Urh Grošelj, Slovenia, Vlado Sarnavka, Croatia


Session I New perspectives in therapy

Chairs: Alberto Burlina, Italy, Ivo Barić, Croatia


09.15  PEG-PAL: the latest evidence

Nicola Longo, USA

09.40 Pharmacological chaperones in PKU: where are we now? 

Aurora Martinez, Norway

10.05  BH4 in children under 4 years

Harvey L. Levy, USA


Session II Brain function

Chairs: Julio Cesar Rocha, Portugal, Friedrich Trefz, Germany


11.25  L5 Brain function in children: the lower the Phe the better the outcomes

Rianne Jahja, The Netherlands

11.50  L6 Brain function and adolescence: foundation for adulthood

Maureen Cleary, UK

12.15 Optimal Phe concentrations in adults

Robin Lachmann, UK

12.40 L8 Nutritional changes and micronutrient supply with BH4

Skadi Beblo, Germany


Session III Oral communication

Chair: Francois Feillet, France


14.30 OC1 Prediction of phenotypes and BH4-responsiveness in phenylketonuria by linking data from genotypes and locus-specific database

Sarah Wettstein, Switzerland

14.45 OC2 Sapropterin dihydrochloride treatment in under 4 years of age Turkish hyperphenylalaninemic patients

Serap Sivri, Turkey

15.00 OC3 Comparing PKU patients with and without BH4 treatment: blood prolactin and serotonin concentrations

Danique van Vliet, The Netherlands

15.15 OC4 Cholinergic alterations are caused by hyperphenylalaninemia in rat brain

Patrícia Fernanda Schuck, Brazil

15.30 OC5 Three girls with microcephaly and hyperphenylalaninemia 

Serap Sivri, Turkey

15.45 BH4 responsiveness: Ege University experience

Sema Kalkan Uçar, Turkey


Session IV Parallel workshops


16.30 Workshop 1: Maternal PKU - Interactive clinical case presentations

Friedrich Trefz, Germany

Louise Robertson, UK

16.30   Workshop 2: European and USA guidelines - controversies

Francjan van Spronsen, The Netherlands

Alberto Burlina, Italy

Nicola Longo, USA

16.30 Workshop 3: Diet plus sapropterin in clinical practice - Interactive clinical case presentations

Amaya Belanger-Quintana, Spain

Margreet van Rijn, The Netherlands

Saturday, 7 June


Session V From basic knowledge to daily management

Chairs: Hulya Gokmen-Ozel, Turkey, Valentina Uroić, Croatia


08.35  L9 PKU mouse models: what do they tell us?

Beat Thöny, Switzerland

09.00  Oxidative stress: the evidence in PKU

Priscila Mazzola, The Netherlands

09.25 Feeding development and nutritional issues in PKU: latest research

Anita MacDonald, UK

09.50 Genes involved in early aging and cognitive loss: is PKU also at risk?

Andrea Pilotto, Germany


Session VI European guidelines

Chair: Francjan van Spronsen, The Netherlands


11.10 European guidelines statements: have your say

Annemiek van Wegberg, The Netherlands


Session VII Asbjørn Følling and PKU awards PKU Academy fellowship

Chairs: Amaya Bélanger-Quintana, Spain, Anita MacDonald, UK


12.10 Asbjørn Følling lecture and award

Friedrich Trefz, Germany

12.40 EXCEMED award for best oral communication in PKU

To be announced at the meeting

12.55 PKU Academy fellowship 2012: final results

Priscila Mazzola, The Netherlands

13.10 PKU Academy fellowship 2013: winner presentation

Patrícia Fernanda Schuck, Brazil

CME provider

Ivo Barić

Department of Pediatrics

University Hospital Center Zagreb

Zagreb, Croatia

Amaya Bélanger Quintana

Unidad de Enfermedades Metabólicas

Servicio de Pediatría

Hospital Ramón y Caja

Madrid, Spain

Nenad Blau

University Children's Hospitals

Heidelberg, Germany And Zürich, Switzerland

Alberto Burlina

Division of Metabolic Diseases 

Department of Pediatrics

University Hospital Padua

Padua, Italy

François Feillet

Centre de Référence des

Maladies Héréditaires du Métabolisme

Hôpital d’Enfants, CHU Brabois

Vandoeuvre les Nancy, France

Hulya Gokmen-Ozel 

Department of Nutrition and Dietetics

Hacettepe University, Ankara, Turkey

Anita MacDonald

Dietetic Department

The Children's Hospital

Birmingham, UK

Júlio César Rocha

Center of Medical Genetics

Centro Hospitalar do Porto

Porto, Portugal

Friedrich K. Trefz

Children’s Hospital

Kreis Kliniken Reutlingen GmbH

Klinikum am Steinberg

School of Medicine 

University of Tuebingen Reutlingen, Germany

Margreet van Rijn

Section of Metabolic Diseases

Beatrix Children's Hospital

University Medical Center Groningen

Groningen, The Netherlands

Francjan J. van Spronsen

Beatrix Childrens Hospital

University Medical Center of Groningen

Groningen, the Netherlands

Valentina Uroić 

Department of Nutrition and Dietetics

University Hospital Centre Zagreb

Zagreb, Croatia


Nenad Blau

Senior Consultant in Biochemical Genetics
Dietmar-Hopp-Metabolic Center
Division of Clinical Chemistry and Biochemistry
University Children's Hospital
Heidelberg, Germany

Anita Macdonald

Dietetic Department
The Children’s Hospital
Birmingham, United Kingdom


EXCEMED adheres to guidelines of the European Accreditation Council for Continuing Medical Education (EACCME) and all other professional organisations, as applicable, which state that programmes 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 programme  (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 judgements, based on full disclosure of the facts.

Further, all opinions and recommendations presented during the programme and all programme-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:

Ivo Barić No potential conflict of interest

Amaya Bélanger-Quintana Honoraria & consultation fees from Nutricia, Nestle, Merck Serono

Nenad Blau Grants and contracts from Merck Serono and BioMarin Pharmaceutical Inc

Alberto Burlina Member of a company advisory board: Merck Serono

Maureen Cleary Honoraria & consultation fees from: Merck Serono. Member of Merck-Serono advisory board

François Feillet Honoraria & consultation fees from: Merk Serono, Genzyme, BioMarin

Hulya Gokmen-Ozel Honoraria & consultation fees from Enep group

Urh Grošelj No potential conflict of interest

Rianne Jahja Honoraria & consultation fees for  the MEMG in December 2013

Robin Lachmann No potential conflict of interest

Harvey L. Levy Grants and contracts from BioMarin Pharmaceutical Inc

Nicola Longo Grants and contracts from Biomarin Pharmaceutical Inc. (to the University of the Utah). Member of a company advisory board: Biomarin Pharmaceutical Inc

Anita MacDonald  Grants and contracts from Nutricia, Vitaflo, Merck Serono

Aurora Martinez Grants from Novoseeds (NovoNordisk 2011-2014)

Priscila Mazzola No potential conflict of interest

Andrea Pilotto No potential conflict of interest

Louise Robertson No potential conflict of interest

Júlio César Rocha Member of the European Nutritionist expert panel in PW - Merk Serono

Vlado Sarnavka No potential conflict of interest

Beat Thöny No potential conflict of interest

Friedrich K. Trefz Honoraria & consultation fees from: Merk Serono

Valentina Uroić No potential conflict of interest

Margreet van Rijn Honoraria & consultation fees from: Danone, Nutircia, Merk Serono

Francjan J. van Spronsen Honoraria & consultation fees from: Merk Serono, Nutricia  Grants and contracts from: Merk Serono, Nutricia

Annemiek van Wegberg No potential conflict of interestDisclosure of faculty relationships

The following faculty has provided no information regarding significant relationship with commercial supporters and/or discussion of investigational or non-EMEA/FDA approved (off-label) uses of drugs as of 27/05/2014

Skadi Melanie Beblo

Patrícia Fernanda Schuck

Endocrinology and metabolism
Endocrinology and metabolism
Endocrinology and metabolism
Endocrinology and metabolism
Endocrinology and metabolism
Endocrinology and metabolism
Endocrinology and metabolism
Slide kit
Priscila Mazzola
Endocrinology and metabolism
Slide kit
Andrea Pilotto
Endocrinology and metabolism
Endocrinology and metabolism
Slide kit
Sema Kalkan Uçar
Endocrinology and metabolism
Slide kit
Urh Grošelj
Endocrinology and metabolism
Slide kit
Aurora Martinez
Endocrinology and metabolism
Slide kit
Harvey Levy
Endocrinology and metabolism
Slide kit
Robin Lachmann
Endocrinology and metabolism