Program

9^th Austrian-Swiss Metabolic Meeting

Preliminary program

Time	Program
10:30 – 12:00	Meeting of the Austrian Metabolic Working Group (members only) Sitzungszimmer G39
10:30 – 12:00	Meeting of the SGIEM (members only) Hörsaal A
13:30 – 13:45	Welcome Ilse Kern (Genève, CH), Diana Ballhausen (Lausanne , CH), Christel Tran (Lausanne, CH)
	Session 1 Chair: Daniela Karall (Innsbruck, AT), Jean Marc Nuoffer (Bern, CH)
13:45 – 14:30	KEY LECTURE 1: Liver transplantation in IMD & its neurological impact Carlo Dionisi-Vici (Rome, IT)
14:30 – 15:15	KEY LECTURE 2: Surgical aspects of liver transplantation in IMD & organ allocation Barbara Wildhaber (Genève, CH) & Andreas Entenmann (Innsbruck, AT)
15:15 – 15:30	Open discussion Carlo Dionisi-Vici (Rome, IT), Barbara Wildhaber (Genève, CH) & Andreas Entenmann (Innsbruck, AT)
15:30 – 16:00	Coffee
	Session 2 Chair: Vassiliki Konstantopoulou (Vienna, AT), Diana Ballhausen (Lausanne, CH)
16:00 – 17:00	LTX cases from Austria: focussing on outcome Discussion of Austrian transplanted patients Andreas Entenmann (Innsbruck, AT)
17:00 – 18:00	Outcomes of liver transplantation in patients with Inborn Errors of Metabolism: how do we stand in Switzerland? Discussion of Swiss transplanted patients Ilse Kern (Genève, CH), Michel Hochuli (Bern, CH)
18:00 – 18:30	Roundtable Barbara Wildhaber (Genève, CH) & Andreas Entenmann (Innsbruck, AT), Daniela Karall (Innsbruck, AT), Matthias Baumgartner (Zurich, CH), Michel Hochuli (Bern, CH) & Ilse Kern (Genève, CH)
from 19:30	Dinner Café Kornsilo

Time	Program
	Session 3 Chair: Sabine Scholl-Bürgi (Innsbruck, AT), Christel Tran (Lausanne, CH)
08:30 – 09:15	KEY LECTURE 3: life after LTX: the good, the bad & the ugly way Valérie McLin (Genève, CH)
09:15 – 10:00	KEY LECTURE 4: Nutritional outcomes pre and post liver transplantation in IMD – what have we achieved? Anne Daly (Birmingham, UK)
10:00 – 10:15	Open discussion
10:15 – 10:45	Coffee
10:45 – 12:45	FREE COMMUNICATIONS: Clinical or laboratory related Chair: Dorothea Möslinger (Vienna, AT), Johannes Häberle (Zurich, CH)
10:45 – 11:00	Long term follow-up after transplantation in propionic acidemia: A aetrospective French pediatric and adult cohort study Tristan Mekdade (Paris, FR; Lausanne, CH)
11:00 – 11:15	Cell-specific metabolic dependencies influence propionate catabolism in methylmalonic aciduria Caroline T. Frei (Zurich, CH)
11:15 – 11:30	Inherited disorders of energy metabolism: clinical pitfalls and functional diagnostic approaches Andrea Felser (Bern, CH)
11:30 – 11:45	Evaluation of Nanolive holotomography for the analysis of fibroblasts from patients with mitochondrial diseases Johannes Mayr (Salzburg, AT)
11:45 – 12:00	From genotype to outcome: Zygosity-specific insights in 63 cases of CLPB-related mitochondrial disease Oliver Heath (Salzburg, AT)
12:00 – 12:15	Enhancing biochemical genetic testing performance via quantitative external quality assessment: Lessons from 25 years of ERNDIM schemes Katrin Freiburghaus (Bern, CH)
12:15 – 12:30	Brain morphometry associated with cognitive and fine motor functions in youth with classic galactosemia Anja Vossenkaul (Bern, CH)
12:30 – 12:45	Genotype and phenotype description in individuals with GYG1 variants – A case report and systematic review Malou Schadeck (Lausanne, CH)
12:45 – 13:00	Closing remarks / Conclusion
13:00	End of meeting