Please note that all starting times indicated are London time!

London TimeSeptember 17th 2021
11.00Start of the SSIEM Virtual Symposium Day
11.00lndustry Sponsored Symposium - supported by Amicus Therapeutics
Managing the whole patient: early and multisystemic treatment in Fabry disease
11.45lndustry Sponsored Symposium - supported by Recordati Rare Diseases
Long-Term Management Optimisation of patients with propionic and methylmalonic acidurias
Meeting HostsAngela Garcia-Cazorla (Barcelona, Spain)
Fanny Mochel (Paris, France)

12.30Introduction from the SSIEM President
Gajja Salomons (Amsterdam, The Netherlands)
12.40Novel biomarkers in IMD
Biomarkers in mitochondrial disease
Rita Horvath (Cambridge, UK)
Flash communication: mitochondrial DNA quantification in the cerebrospinal fluid
Abraham Paredes (Barcelona, Spain)
Lipid biomarkers and neurodegenerative diseases
Foudil Lamari (Paris, France)
Flash communication: C26:0-lysophosphatidylcholine for the diagnosis of peroxisomal disorders
Yorrick Jaspers (Amsterdam, The Netherlands)
14.10Adult Group Session – How would you treat these patients? Session on clinical dilemmas.
Chair: Mirjam Langeveld (Amsterdam, The Netherlands)
Debate on treatment options in PKU
Elaine Murphy (London, UK) and Mirjam Langeveld (Amsterdam, The Netherlands)
Debate on treatment options in Fabry disease
Derralynn Hughes (London, UK) and Carla Hollak (Amsterdam, The Netherlands)
15.25Novel therapeutic approaches
IMD liver transplantation – Rome experience
Carlo Dionisi-Vici (Rome, Italy)
IMD liver transplantation – USA experience
Jerry Vockley (Pittsburgh, USA)
Update on pyridoxal phosphate supplementation in Pyridoxal Kinase deficiency
Viorica Chelban (London, UK)
Leriglitazone Multicentric experience to treat X-linked Adrenoleukodystrophy
Fanny Mochel (Paris, France)
16.50Dietary Group Session – New diet therapies, new challenges and the future
Marjorie Dixon (London, UK)
Pyridoxine dependent epilepsy – first revision of the PDE Consortium Dietary guidelines and results from the international diet survey
Annemiek van Wegberg (Nijmegen, The Netherlands)
Long-term nutritional experience with triheptanoin in Austrian patients with long-chain fatty acid oxidation disorders
Monika Jörg Streller (Innsbruck, Austria)
18.05Komrower Lecture - The identification of new rare metabolic diseases: an example of the tremendous impact on Estonia’s detection rate by new technologies
Katrin Ounap (Tartu, Estonia)
18.55Concluding remarks from the SSIEM President
Gajja Salomons (Amsterdam, The Netherlands)
19.15lndustry Sponsored Symposium - supported by PTC Therapeutics
Rare disorders of monoamine metabolism: a focus on AADC deficiency