Hepatic Glycogen Storage Diseases

Wednesday 19.10.2022
18:30-20:00Satellite Symposium - supported by Sanofi-Aventis Deutschland GmbH
30 Jahre Erfolgsgeschichte der Enzymersatztherapie (ERT)
Chair: Claus Niederau, Oberhausen
18:45-19:05Ursache unklarer Symptome? ASMD - Eine weitere Indikation im Portfolio einer seltenen Erkrankung
Natalie Weinhold, Berlin
19:05-19:40Erste kausale Therapie mit Olipudase alfa
Eugen Mengel, Hochheim
19:40-20:00Gemeinsame Diskussion & Ausblick
in parallel with
19:00-20:00Satellite Symposium - supported by Vitaflo Deutschland GmbH
Ketotische Glykogenosen: Grundlagen und Behandlung
Ulrike Steuerwald, Tórshavn/Färöer
from 20:00Get together with poster walk
Thursday 20.10.2022
Blauer Saal
Sarah Grünert, Freiburg
08:40-10:10Hepatic GSDs: Clinical overview
Chair: Gwendolyn Gramer, Hamburg & Chris Mühlhausen, Göttingen
08:40-09:15The phenotypic spectrum of hepatic GSDs in children: from symptom to diagnosis
René Santer, Hamburg
09:15-09:45Aging with a hepatic GSD - - - complications in adulthood
Monika Williams, Chapel Hill, NC, USA
09:45-10:10Continous glucose monitoring in patients with hepatic GSDs
Terry Derks, Groningen, NL
10:10-10:40 Coffee Break | Posters | Industrial Exhibition
10:40-12:30 Understanding pathophysiological mechanisms
Chair: Eva Thimm, Düsseldorf & Stefan Kölker, Heidelberg
10:40-11:10Glycogen metabolism and its genetic defects
Emile van Schaftingen, Brussels, B
11:10-11:40Pathophysiological mechanism of neutropenia in GSD Ib
Maria Veiga da Cunha, Brussels, B
Discovering new pathways in GSD type 1
Maaike Oosterveer, Groningen, NL
Assessment of endogenous glucose production in glycogen storage disease type I using stable isotopes
Alessandro Rossi, Naples, I
12:30 - 13:45Break with Poster-Lunch | Industrial Exhibition
13:45-15.00Free Communications
Chair: Ute Spiekerkötter, Freiburg & Ralf Husain, Jena
FC01-01First stereotactic application of eladocagene exuparvovec into the putamen of a 3-year-old AADC-patient in Germany
Stine Christ, Heidelberg
FC01-02Rosa canina L. extract can normalize the lipid profile and protein trafficking of various Niemann-Pick C1 gene mutations
Dalande Wanes, Hannover
FC01-03Pathomechanism of CALFAN syndrome
Tal Dattner, Heidelberg
FC01-04Subdural hematoma in glutaric aciduria type 1: High excreters are prone to incidental SDH despite newborn screening
Nikolas Boy, Heidelberg
FC01-05Analysis of emotional & cognitive resources of patients with hyperphenylalaninemia (HPA)
Anne Tomm, Leipzig
FC01-06Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria
Sven Garbade, Heidelberg
FC01-07Changes in the care of adult PKU patients due to the COVID-19 pandemic: a retrospective review of the past 2 pandemic years.
Jan-Philipp Köhler, Düsseldorf
15:00-15:30Coffee Break | Posters | Industrial Exhibition
15:30-17:00APS General Meeting
Blauer Saal
17:15-19:15Social Event (City Tour)
from 20:00APS Dinner
Herkules Terrassen
Friday 21.10.2022
08:30 - 09:45Free Communications II
Blauer Saal
Chair: Amelie Lotz-Havla, München & Peter Freisinger, Reutlingen
FC02-01aRgus: a versatile tool for variant visualization and advanced prediction score modeling in inherited metabolic diseases
Julian Schröter, Heidelberg
FC02-02A network medicine approach identifies key TCA cycle enzymes as potential therapeutic targets in organic acidemias
Zina Piper, Hamburg
FC02-03Sudden neonatal death in individuals with medium-chain acyl-coenzyme A dehydrogenase deficiency, 2005-2021 in Germany: limit of newborn screening
Ulrike Mütze, Heidelberg
FC02-04Feasibility of glycosylation analysis from newborn screening cards: a case series
Julien H. Park, Münster
FC02-05Metabolic profiling and mitochondrial function in hepatic glycogen storage diseases- a fibroblast study
Jule Theimer, Freiburg
FC02-06Heterozygosity for glycogen storage disease type IIIa might add to the risk for developing type 2 diabetes
Ulrike Steuerwald, Tórshavn, Faroe Islands
FC02-07Evaluation of vascular dysfunction and risk of atherosclerosis in patients with glycogen storage disease type I
Johannes Schmitt, Freiburg
09:45-10:15Coffee Break | Posters | Industrial Exhibition
10:15 - 11:15Living with a hepatic GSD
Chair: Dorothea Haas, Heidelberg & Monika Williams, Chapel Hill, NC, USA
10:15-10:45Challenges and opportunities of living with a hepatic GSD
G. K., Stuttgart
10:45-11:15Priorty setting partnership for glycogen storage diseases: cooperation of doctors and patients
Ute Stachelhaus, Gelsenkirchen
Terry Derks, Groningen, NL
11:45-13:05Treating Hepatic GSDs: new approaches
Chair: Ulrike Mütze, Heidelberg & Johannes Häberle, Zurich, CH
11:45-12:10Starch treatment in hepatic glycogen storage disorders
Helen Mundy, London, UK
12:10-12:35SGLT2 inhibitors in neutropenia of GSD1b
Saskia Wortmann, Salzburg, A
12:35-13:05The different types of gene therapy in hepatic GSDs
Priya S. Kishnani, Durham, NC, USA
13:05-13:20Prizes, Farewell, Invitation for APS 2023
13:30-14:20Junge Stoffwechselmedizin (JSM)
Blauer Saal
from 14:30APS Seminar
Blauer Saal