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Inherited metabolic disease: a case based approach

This course aims to provide an introduction to the diagnosis and management of Inherited Metabolic Diseases (IMDs). We will use a case-based approach, concentrating on the different clinical presentations which can be seen with this diverse group of conditions. For each clinical scenario, we will consider the differential diagnosis, investigations and diagnostic pathway, acute and chronic clinical management. The format will be interactive and will concentrate on working through clinical examples, both in plenary sessions and smaller group workshops, with the help of clinicians, biochemists and dieticians. These are lifelong, genetic diseases and we will cover paediatric and adult presentations and discuss the lifetime course of disease.