Course description

IEMs can affect many organs including the nervous system, eye, liver, kidney, heart and muscle. The first clinical symptoms usually manifest in infancy or childhood but in a proportion of cases they can appear in adolescence or adulthood.

Improvements in screening programmes, diagnostic tests and therapeutic interventions have all led to increasing numbers of children with inherited metabolic diseases surviving through childhood into adolescence and adulthood. These individuals are often able to integrate into society, but many have complex, multisystem problems that require ongoing care.

The aim of this course is to provide participants with the skills and knowledge to be able to diagnose late onset presentations of IEMs and to undertake assessment and treatment of adult patients with metabolic disease.

The course will be run by experienced metabolic specialists in adult and paediatric care and is intended for a broad range of specialists caring for adults with metabolic disease.

LEARNING OBJECTIVES:
by the end of the course participants should be able to manage:

• the metabolic diagnostic approach in different clinical contexts including reanimation, internal medicine, neurology and psychiatry,
• the diagnosis, assessment and treatment of a wide range of IEM,
• the use of specialised laboratory investigations,
• the use of specialised dietary interventions and specifi c corrective treatments to optimise long-term disease outcome,
• the counselling of affected families.

Pitié-Salpêtrière Hospital, Paris

In 1656, the “Hospice de la Salpêtrière” was built on the grounds of an old gunpowder factory ("salpêtre" being a constituent of gunpowder). Later, through the eminent Dr. Jean-Martin Charcot, the Salpêtrière became world famous as a psychiatric centre; Charcot is often credited as the founder of modern neurology.

The Pitié-Salpêtrière is now the biggest university hospital in Europe, with departments focusing on most major medical specialities and research. Neurology is well represented with at least 13 different international-leading departments covering most fields (movement disorders, neurodegenerative diseases, multiple sclerosis, epilepsy, neurosurgery, sleep disorders, neuroradiology, neurogenetics etc.). The "Institute of Brain and Spinal Cord" that will be constructed in 2010 will be the biggest neurological research centre in the world.

During the last 5 years, the federation of nervous system diseases has developed a unit dedicated to neurological aspects of inherited metabolic diseases. Around 200 patients are now followed in this unit which has four major goals:

1. to take care of patients previously followed in paediatric metabolic centres,
2. to diagnose late onset forms of IEM,
3. to develop teaching,
4. to develop research in metabolic aspects of nervous system diseases.