Nervous system is very often involved in inborn errors of metabolism (IEM). In clinical practice, those disorders showing exclusively neurological manifestations have a more difficult diagnostic approach than those affecting other organs. This course will give an overview of the main categories of IEMs that affect the brain introducing the pathophysiological mechanisms of neuronal damage as well as the most prominent neurological signs.
The organizers will strongly support the presentation of practical approaches such as symptom based diagnostic algorithms and the discussion of clinical cases presented by the course participants.
LEARNING OBJECTIVES
- To learn the neurological manifestations and mechanisms of disease of brain energy defects, urea cycle disorders, organic acidurias, homocystinurias, and neurotransmitter defects.
- To discover a new group of IEM with important neurological involvement: the inborn errors of the synthesis and remodelling of complex lipids.
- To learn about IEM presenting with movement disorders as a major clinical sign.
- Insight into the emergency treatment of neurometabolic diseases.
- IFamiliarizing with practical issues in diagnosing and treating patients with neurometabolic disorders.
Institutes of main organisers - providers
- National Taiwan University Hospital
- Kumamoto University
- Asan Medical Center, University of Ulsan College of Medicine
Scientifc Organising Committee
- Prof. Fumio Endo, Kumamoto, Japan
- Dr. Angeles Garcia-Cazorla, Barcelona, Spain
- Prof. Stefan Kölker, Heidelberg, Germany
- Prof. Jean-Marie Saudubray, Paris, France
- Prof. Han Wook Yoo, Seoul, South Korea
- Prof. Paul Wuh-Liang Hwu, Taipei, Taiwan
Contact RRD Foundation
Cecilia Kellquist
Recordati Rare Diseases Fondation d'entreprise
Immeuble ‘Le Wilson’
70 avenue du Général de Gaulle
92800 PUTEAUX, France
Telephone : +33 1 47 73 86 11
Fax : +33 1 49 00 18 00
Email : ckellquist@rrd-foundation.org