18th International SPDM Symposium
4th – 7th May 2022
Hybrid Symposium
“Unlimited boundaries in inborn errors of Metabolism”
Scientific Programme
| Wednesday, 4th May | |
| 16:00 17:00 |
SPDM Groups Meeting |
| 17:00 18:00 |
SPDM Nutrition Group Meeting |
| 18:00 |
Departure to visit Óbidos |
| Thursday, 5th May | |
| 08:30 |
Registration Opening |
| 09:00 |
Symposium Opening - Welcome Address on behalf of the SPDM Symposium Chairperson - Patrícia Janeiro |
| 09:15 10:55 |
Session I Inborn Errors of Metabolite Repair: a new challenge Chairperson - Patrícia Janeiro, Lisboa, PT / Dulce Quelhas, Porto, PT |
| 09:15 09:40 |
Inborn errors of metabolite repair: insights in disease pathophysiology and treatment Maria Veiga da Cunha, Brussels, Belgium |
| 09:40 10:05 |
A story of metabolite-repair in glycolysis: neutropenia and neutrophil dysfunction in glycogen storage disease type Ib/a Saskia Wortmann, Salzburg, Austria |
| 10:05 10:30 |
L-2-Hydroxyglutaric aciduria: an inborn error of metabolism repair Edward A. Struys, Amsterdam, Netherlands |
| 10:30 10:55 |
Metabolic repair enzymes as targets for new therapies in CDG Eva Morava, Minnesota, USA |
| 10:55 11:30 |
Coffee Break |
| 11:30 12:45 |
Session II Frontiers of IEM: intracellular crosstalk (Part A) Chairperson – Hugo Rocha, Porto, PT / Luísa Diogo, Coimbra, PT |
| 11:30 11:55 |
Peroxisomal and fatty acid metabolism: intracellular interactions Sander Houten, New York, USA |
| 11:55 12:20 |
Inborn Errors of the malate-aspartate shuttle Nanda Verhoeven-Duif, Utrecht, Netherlands |
| 12:20 12:45 |
Different lipid signature in fibroblasts of long-chain fatty acid oxidation disorders Sara Tucci, Freiburg, Germany |
| 12:45 14:00 |
Lunch |
| 14:00 15:40 |
Session II Frontiers of IEM: intracellular crosstalk (Part B) Chairperson – Margarida Silva, Lisboa PT / Daniel Gomes, Lisboa, PT |
| 14:00 14:25 |
Chemical individuality in T cells: a Garrodian view in immunometabolism Peter J. McGuire, Bethesda, USA |
| 14:25 14:50 |
Mitochondrial redox regulation in hereditary cardiomyopathies Christoph MaacK, Vurzburgo, Germany |
| 14:50 15:15 |
Mitochondrial dysfunction and 3-merthylglutaconic aciduria: a heterogeneous group of syndromes Frederic Tort, Barcelona, Spain |
| 15:15 15:40 |
Mitochondrial disease in adults: recent advances and future promise Yi Ng, Newcastle upon Tyne, UK |
| 15:40 16:00 |
Coffee Break |
| 16:00 17:00 |
Session III - Oral Communications Chairperson – Anabela Oliveira, Lisboa PT / Manuela Grazina, Coimbra, PT |
| Poster View |
|
| 18:30 |
Departure to Dinner |
| Friday, 6th May | |
| 09:00 09:50 |
Session IV - Short Oral Communications Chairperson – Helena Santos, VNGaia, PT / Francisca Coutinho, Porto, PT |
| 09:50 12:50 |
Session V - The clinical spectrum of IEM: organ as a clue to the diagnosis Chairperson – João Durães, Coimbra, PT / Anabela Bandeira, Porto, PT |
| 09:50 10:15 |
Disorders of cellular trafficking: mechanisms and symptoms Angels Garcia-Cazorla, Barcelona, Spain |
| 10:15 10:40 |
Neuronal migration defects related to IEM Stephanie Grunewald, London, UK |
| 10:40 11:10 |
Coffe Break |
| 11:10 11:35 |
The skin as a clue for the diagnosis of inherited metabolic disorders Carlo Dionisi-Vici, Rome, Italy |
| 11:35 12:00 |
Muscle manifestations of IEM Mirjam Langeveld, Amsterdam, Netherlands |
| 12:00 12:25 |
Kidney manifestations of Lisossomal diseases Patrício Aguiar, Lisboa, Portugal |
| 12:25 12:50 |
Eye manifestations of IEM: clues to diagnosis Ana Cláudia Fonseca, Lisboa, Portugal |
| 12:50 14:15 |
Lunch | Poster View |
| 14:15 15:55 |
Session VI – Treatment management in IEM: dietetic and pharmacologic Chairperson – Maurizio Scarpa, Udine, IT / Ana Paula Leandro, Lisboa, PT |
| 14:15 14:40 |
Novel RNAi therapeutics for Primary Hyperoxaluria Sander Garrelfs, Amsterdam, Netherlands |
| 14:40 15:05 |
Nutricional care in lysosomal storage disorders Francesca Carubbi, Modena, Italy |
| 15:05 15:30 |
Metabolic approaches for the treatment and prevention of epilepsy Devle Boison, New Jersey, USA |
| 15:30 15:55 |
Intravenous enzyme replacement therapy in mucopolisacharidoses: clinical effectiveness and limitations Rossella Parini, Milan, Italy |
| 15:55 16:20 |
Coffe Break |
| 16:20 17:30 |
Session VII – Oral Communications Chairperson – Ana Cristina Ferreira, Lisboa, PT / Teresa Campos, Porto, PT |
| 17:30 |
Awards and Final Remarks |
| 17:45 |
End of the Symposium |
