17th International SPDM Symposium
8th – 10th September 2021
Hybrid Symposium

“Linking metabolic signature to IEM treatment”
Preliminary Scientific Programme

 

Wednesday, 8th September
17:45
18:30
SPDM Nutrition Group Meeting
19:00
19:45
Welcome drink

 

Thursday, 9th September
08:30
Registration Opening
09:15
Symposium Opening
09:30
10:30
Session I
IEM's mapping
Chairpersons: Luísa Diogo, Coimbra, PT | Dulce Quelhas, Porto, PT
09:30
10:00
MetabERN - where are we now?
Maurizio Scarpa
10:00
10:30
Revisiting IEM's classification
Carlos Ferreira
10:30
11:00
Coffee Break
11:00
13:00
Session II
Newborn Screening for IEM
Chairpersons: Hugo Rocha, Porto, PT | Ana Gaspar, Lisboa, PT
11:00
11:30
Newborn Screening in Europe and initiatives tp develop programmes in low - and middle-income countries.
Jim Bonham
11:30
12:00
New tests and future directions in the NBS for IEM.
Giancarlo LaMarca
12:00
12:30
Treatment follow-up of screened disorders.
Paula Garcia 
12:30
13:00
Oral Communications to the table
13:00
14:00
Lunch  
14:00
15:50
Session III
From CbL to Hcy
Chairpersons: Isabel Tavares de Almeida, Lisboa, PT | Patrícia Janeiro, Lisboa, PT
14:00
14:30
Remethylation disorders: from cobalamin absorption, intracellular pathways to MTHFR deficiency.
Matthias Baumgartner
14:30
15:00
Inherited disorders of transsulfuration: clinical presentation, diagnosis and recent advances in therapy.
Viktor Kozich
15:00
15:30
The transsulfuration pathway at the crossroads between homocysteine and hydrogen sulfide metabolism: (dys)regulation and (patho)physiological implications.
João Vicente
15:30
15:50
Oral Communications to the table
15:50
16:20
Coffee Break
16:20
17:20
Session IV
IEM Nutritional and Pharmacological treatment
Chairpersons: Paula Leandro, Lisboa, PT | Sandra Mexia, Lisboa, PT
16:20
16:50
Current and future approaches in PKU treatment.
Cary Harding
16:50
17:20
Micronutrients – Role in IEM treatment.
Júlio Cesar Rocha
17:20
18:00
Session V
General Oral Communications
Chairpersons: Helena Santos, V.N.Gaia, PT | Ana Crstina Ferreira, Lisboa, PT
18:00
19:30
Thematic Meeting
PKU Breaking the Dogma
20:30
21:45
Symposium Dinner

 

Friday, 10th September
09:00
10:30
Session VI
The acetyl-CoA cross
Chairpersons: Domingo Lamuño, SP | M. Teresa Cardoso, Porto, PT
09:00
09:30
Pyruvate dehydrogenase complex deficiency in Portugal: peculiar characteristics of its clinical, metabolic and mutational landscapes.
Hana Pavlu-Pereira
09:30
10:00
Ketotic glycogen storage diseases (GSD): current knowledge, management and monitoring.
Ulrike Steuerwald
10:00
10:30
How to find your way through metabolic disorder in patients with rhabdomyolysis.
Pascal Laforêt
10:30
11:00
Coffe Break
11:00
12:30
Session VII
Lysosomal Disorders
Chairpersons: Elisa Leão Teles, Porto, PT | Paulo Gaspar, Porto, PT
11:00
11:30
A new face in the diagnosis and monitoring of lysosomal disorders.
Johannes Aerts
11:30
12:00
Gene therapy for lysosomal storage disorders: advances, challenges and perspectives.
Maria José Castro 
12:00
12:30
Immunomodulation and ERTs.
Simon Jones
12:30
13:00
Oral Communications to the table
13:00
14:00

Lunch 

14:00
15:30
Session VIII
The ammonia roundabout
Chairpersons: Margarida Silva, Lisboa, PT | Teresa Almeida Campos, Porto, PT
14:00
14:30
New insights into the pathophysiology and molecular basis of UCD's.
Johannes Haberle
14:30
15:00
Potential role of gene therapy for OTC deficiency.
Alvaro Hermida
15:00
15:30
A novel small molecule approach for the treatment of propionic and methylmalonic acidemias.
Marshall Summar
15:30
16:00
Coffe Break
16:00
17:30
Session IX
Down Town Mitochondria
Chairpersons: Esmeralda Martins, Porto, PT | Célia Nogueira, Porto, PT
16:00
16:30
Mitochondrial plasticity - role in muscle pathology.
Rita Ferreira
16:30
17:00
Renal involvemente in Mitochondrial Disorders.
Margarida Coelho
17:00
17:30
The diagnosis of mitochondrial disease using multi-omic methodologies.
Charlotte Alston
17:30
17:45
Bolsa SPDM Dr Aguinaldo Cabral 2019
Sandra Alves
17:45

Awards / closing remarks

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