This module presents the basic knowledge needed to start studying Inherited Metabolic Disorders (IMDs). It includes a general overview of IMDs, in which the main groups of diseases and their characteristics are presented, together with a section dedicated to the main activities of MetabERN network. An introduction to genetics covers some general aspects of genetics in the context of IMDs, including the patterns of inheritance and the different types of gene mutations with their significance, the genetic counselling and the prenatal and preimplantation genetic diagnosis. Lastly, since the dietary treatment is often very important in the management of IMDs, a short overview on nutrition is presented, including an introduction to macro- and micronutrients and a review of changes in nutritional needs with age throughout childhood and adolescence.
Authors: Cinzia Maria Bellettato, Dominique Roland, An de Meyer
