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
The Diagnostic, Clinical and Therapeutic Education Programme on Inherited Metabolic Disorders. Module 1: Basic knowledge in Inherited Metabolic Diseases made available on https://metab.ern-net.eu/education-programme/ and organized by MetabERN – European Reference Network for Hereditary Metabolic Disorders is accredited by the European Accreditation Council for Continuing Medical Education (EACCME®) to provide the following CME activity for medical specialists. Only those e-learning materials that are displayed on the UEMS-EACCME® website have formally been accredited.
Only those e-learning materials that are displayed on the UEMS-EACCME® website have formally been accredited.
Through an agreement between the European Union of Medical Specialists and the American Medical Association, physicians may convert EACCME® credits to an equivalent number of AMA PRA Category 1 Credits™. Information on the process to convert EACCME® credits to AMA credits can be found at https://edhub.ama-assn.org/pages/applications.
This Module has been awarded with 2,5 ECMEC® credits
