Course description

Improvements in screening programmes, diagnostic tests and therapeutic interventions have all led to increasing numbers of children with inherited metabolic diseases surviving throug 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 overall aim of this course is to provide participants with the skills and knowledge to be able to undertake assessment and treatment of adult patients with metabolic disease. This course, limited to 35 participants, will be run by experienced metabolic specialists in adult and paediatric care. It is intended for a broad range of specialists caring for adults with metabolic disease.

The programme will be broken down into lectures, workshops and meet the clinical expert sessions and include sessions on the management of known disorders, neurological presentations and discussion of differences between adult and paediatric cases.

By the end of the course participants should be able to manage:

• the integration of an adult metabolic clinic
• the diagnosis and assessment of a range of IEM
• the use of specialised laboratory investigations, including their limitations
• the use of specialised dietary interventions
• the use of specific corrective treatments to optimise long-term disease outcome
• the counseling of affected families

The Institute of Neurology, Queen Square, London

The Institute of Neurology was established in 1950, as one of the federated Institutes of the British Postgraduate Medical Federation of the University of London. In 1995, following the recommendations of the Tomlinson Report, the Institute affiliated with University College London, and formally merged with the College in 1997.

The Institute has retained and developed its close links with the adjacent National Hospital for Neurology and Neurosurgery (NHNN) and provides teaching and research of the highest quality. With its concentration of clinical and applied scientific activity it constitutes a unique national resource for postgraduate training and research in neurology, its associated disciplines and the basic neurosciences.

The Institute was awarded a grade 5A* rating in the 2001 HEFCE Research Assessment Exercise. The mission of the Institute of Neurology, as a specialist Postgraduate Institute of UCL, is to carry out high quality research, teaching and training in basic and clinical neurosciences. The Institute promotes translation of research that is of direct clinical relevance to improved patient care and treatment.

The NHNN is part of University College London Hospitals Foundation NHS Trust. The NHNN receives 1,000 new referrals for outpatient appointments each month. In any one year the NHNN sees almost 42,000 outpatients in the clinics held here. The hospital has 207 beds