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

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