10:30 - 12:30 Österreichische AG Stoffwechsel
10:15 - 12:15SGIEM
Freiraum / Küchenclub
12:25 - 13:25Adult Subgroup
Freiraum / Küchenclub
12:25 - 13:25SGBOND
12:25 - 13:25Dieticians
Wyss (Hotel Sheraton)
12:25 - 13:25PO Subgroup

TimeTitle / Speaker
13:30 - 15:30Early diagnoses, new treatments - better outcomes? Quo vadis, newborn screening?
Chair: Sabine Scholl-Bürgi (Innsbruck)
13:30Newborn screening for CBS deficiency in view of new treatment options
Viktor Kozich (Prague)
14:10Classical homocystinuria: ways to diagnosis and treatment
Tara Morrison, Homocystinuria Network Australia
14:30Intrathecal enzyme replacement therapy in lysosomal storage disorders
Ingeborg Krägeloh-Mann (Tübingen)
Daniela Karall (Innsbruck)
Vassiliki Konstantopoulou (Wien)
Matthias Gautschi (Bern)
Matthias Baumgartner (Zurich)
& Speakers
15:30Coffee / tea break
16:00 - 18:00Patient Care up to date
Chair: Diana Ballhausen (Lausanne)
16:00What metabolic specialists should know about bones
Nina Lenherr (Zurich)
16:30How to improve the adherence to treatment?
Florin Bösch (Zurich)
17:00Wie kann die Therapieadhärenz bei Jugendlichen gesteigert werden?
Metabolic dieticians Zurich
17:30Transition and transfer in metabolic diseases
Miriam Hufgard-Leitner (Wien)
Zunfthaus zur Waag

TimeTitle / Speaker
08:30 - 10:30New treatments – early experience. Invited and free oral presentations
Chair: Matthias Gautschi (Bern)
08:30 - 09:00Introducing novel therapies in Switzerland for adult patients with IEM: early experience
Christel Tran (Lausanne)
09:00 - 09:13Decreased oxygen consumption rate in patients with GCSH deficiency, a novel metabolic disorder of lipoylation and glycine cleavage
Melanie Achleitner (Salzburg)
09:13 - 09:26Newborn screening for vitamin B12 deficiency: worth the effort?
Stella Knöpfli (Zurich)
09:26 - 09:34A targeted metabolomics screening method for identification of inborn errors of metabolism (IEMs)
Martin Poms (Zurich)
09:34 - 09:42Empagliflozine for treating neutropenia/neutrophil dysfunction in infants with glycogen storage disorder 1B under the age of 1 year
Matthias Gautschi (Bern)
09:42 - 09:50Specific GAG ratios in the diagnosis of mucopolysaccharidosis
Déborah Mathis (Bern)
09:50 - 09:58Challenges in implementing new treatments in rare diseases: Vosoritide for Achondroplasia
Bianca Link (Zurich)
09:58 - 10:06Intra- and extracellular metabolic investigation of 3D cell culture by real-time NMR for investigating metabolic diseases
Christian Urzi (Bern)
10:06 - 10:14The increasing burden of overweight and obesity in adult patients with phenylketonuria: a systematic review
Aurel T. Tankeu (Lausanne)
10:14 - 10:22Selective galactose culture condition reveals distinct metabolic signatures in complex 1, 5 and MDH2 deficient human skin fibroblasts by 1H HR-MAS NMR
Christoph Meyer (Bern)
10:22 - 10:30Discussion
10:30Coffee / tea break
11:00 - 13:00Non-curative treatments in heterogeneous populations– when to start and when to stop
Chair: Dorothea Möslinger (Vienna)
11:00Ethical aspects
Anna Cavigelli-Brunner (Zurich)
Marlis Pfändler (Zurich)
11:30A palliative medicine perspective
Eva Bergstraesser (Zurich)
12:00A health economics perspective
Judit Simon (Vienna)
12:30Panel discussion
Barbara Plecko (Graz)
Johannes Häberle (Zurich)
& Speakers
13:00Closure of meeting
Marianne Rohrbach, Martina Huemer
13:10Farewell Snack