Inborn errors of (synaptic) neurotransmission

 APS Annual conference
Wednesday 22.9.2021
08:30 - 13:00APS Stoffwechselseminar
14:00 - 16:00Junge Stoffwechsel-Medizin
16:00 - 17:30Satellite Symposium - supported by Vitaflo Deutschland GmbH
Long‑term experience with triheptanoin in 12 Austrian patients with long‑chain fatty acid oxidation disorders
D. Karall, M. Jörg-Streller, Innsbruck
17:45 - 19:15Satellite Symposium - supported by PTC Therapeutics
Innovating in rare neurometabolic disorders: A focus on AADC deficiency
Chair: H. Brennenstuhl, Heidelberg
17:45-17:50Welcome, introductions and objectives
H. Brennenstuhl, Heidelberg
17:50-18:05Introducing AADC deficiency, a rare neurometabolic disorder
B. Ben-Zeev, Tel Aviv
18:05-18:25Real-life case studies: Helping earlier identification and diagnosis of patients with AADC deficiency in clinical practice
A. Roubertie, Montpellier
18:25-18:50An overview of innovative gene therapy treatments in development for patients with AADC deficiency
P. Hwu, Taipei
18:50-19:10Panel discussion with live questions from attendees, moderated by the Chair
19:10-19:15Summary with key takeaways and close of the symposium
H. Brennenstuhl, Heidelberg
in parallel with
17:45 - 19:15Satellite Symposium - supported by Recordati Rare Diseases
Long-Term Management Optimisation of patients with propionic and methylmalonic acidurias
Chair: S. Yap, Sheffield
J. Krings, Recordati Rare Diseases Germany
17:50-17:55Introduction Chair
S. Yap, Sheffield
17:55-18:30Three-year follow-up of patients with propionic and methylmalonic acidurias
Long-term Carbaglu® treatment vs Liver transplant
S. Matsumoto, Kumamoto
18:30-19:05PROTECT trial - Overview and interim data
Clinical experience with long-term treatment of patients with propionic and methylmalonic acidurias
S. Yap, Sheffield
19:10-19:15Summary & wrap up
S. Yap, Sheffield
from 19:30Get together with poster walk
Haupthalle/ Blauer Saal
 APS Annual conference
Thursday 23.9.2021, Festsaal
08:30Welcome & Introduction
T. Opladen, Heidelberg
08:30 - 10:00Mechanisms of synaptic function and dysfunction
Chair: Diana Ballhausen, Lausanne - Natalie Weinhold, Berlin
08:30Synapse function in the human central nervous system
F. Lopez Murcia, Göttingen
09:00Synaptic metabolism: a new approach to inborn errors of neurotransmission
A. Garcia-Cazorla, Barcelona
09:30Clinical presentation and disease mechanisms in genetic postsynaptic movement disorders
L. Abela, London
10:00Movement disorders in children and adults with treatable inborn errors of metabolism
D. Ebrahimi-Fakhari, Boston
10:30 - 11:00Coffeebreak | Posters | Industrial Exhibition
11:00 - 12:30Synaptic dysfunction in IEM
Chair: Sabine Scholl-Bürgi, Innsbruck - Galina Stevanovic´, Belgrade
11:00Tetrahydrobiopterin (BH4) disorders: Pathophysiological consideration, clinical phenotype and treatment response
T. Opladen, Heidelberg
11:30Pathophysiological involvement of neurotransmitters in monogenetic pediatric epilepsies
S. Syrbe, Heidelberg
12:00Glycine encephalopathy
J. van Hove, Denver
12:30 - 13:30Lunchbreak | Posters | Industrial Exhibition
13:30 - 14:30Novel pathophysiological concepts in synaptic neurotransmission
Chair: Beat Thöny, Zurich - Esther Maier, Munich
13:30Induced pluripotent stem cells (IPSC) modelling of movement disorders
S. Jung-Klawitter, Heidelberg
14:00Next generation sequencing, bioinformatic analyses and data integration in neurometabolic disorders
D. Hübschmann, Heidelberg
14:30 - 15:30Free communications I
Chair: Sarah Grünert, Freiburg - Julia Hennermann, Mainz
Novel insights expanding the phenotypic spectrum of inherited disorders of biogenic amines
O. Kuseyri Hübschmann, Heidelberg
Intraventricular cerliponase alfa as standard of care in CLN2 disease: 4-year update from an independent ongoing observational study
A. Schulz, Hamburg
Cognitive long-term outcome of early diagnosed individuals with glutaric aciduria type 1 – a national prospective study over 20 years
E. Maertner, Heidelberg
Lentiviral Haematopoietic Stem and Progenitor Cell Gene Therapy for Metachromatic Leukodystrophy (MLD): Clinical Outcomes from 38 Patients
F. Fumagalli, Milan
Evaluation of the family burden of parents of children with urea cycle defects
M. Scharping, Heidelberg
The impact of disease severity on the psychological well-being of youth affected by an inborn error of metabolism and their families: A one-year longitudinal study
D. Ballhausen, Lausanne
End of the scientific programme of the 1st day
15:30 - 16:00Coffeebreak | Posters| Industrial Exhibition
16:00 - 17:30APS members‘ meeting
18:00 - 19:30Networking Event (TBC)

from 20:00APS Dinner
 APS Annual conference
Friday 24.9.2021, Festsaal
08:30 - 10:00Free Communications II
Chair: Chris Mühlhausen, Göttingen - Luciana Hannibal, Freiburg
Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria
P. Forny, Zurich
A spoonful of L-fucose - An efficient therapy for GFUS-CDG, a new glycosylation disorder
S. Wortmann, Salzburg
HPDL-associated neurological disease - current knowledge and further evidence for a
mitochondrial disease-like phenotype
R. Husain, Jena
Effect of ketogenic diet treatment on cellular lipids in murine hippocampal neurons
P. Dabke, Hannover
Long-term Outcomes of Individuals with Metabolic Diseases Identified Through Newborn Screening
U. Mütze, Heidelberg
Newborn screening and disease variants predict neurological outcome in isovaleric aciduria
L. Henze, Heidelberg
Molecular and cellular analysis of intestinal lactase-phlorizin hydrolase gene variants
L. Marten, Göttingen
Endothelial Colony Forming Cells as a primary cell model of Fabry disease
S. Tokic, Graz
Impact of Fabry disease on mitochondrial homeostasis in renal epithelial cells
A. Schumann, Freiburg
10:00 - 10:30Coffeebreak | Posters | Industrial Exhibition
10:30 - 12:00Modern diagnostic and treatment strategies
Chair: Georg F. Hoffmann, Heidelberg - Thomas Lücke, Bochum
10:30Next generation metabolic screening in CSF in neurometabolic disorders
K. Coene, Nijmegen
11:00Pharmacological and enzyme-replacement therapeutic
strategies for SSADH deficiency
H. Lee, Boston
11:30Gene therapy for AADC deficiency
T. Pearson, St. Louis
12.00Awards – Closing remarks – Invitation for 2022
Individual departure