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