This module deals with the metabolism of lipids and fatty acids, with a particular focus on two diseases: Smith-Lemli-Opitz Syndrome (SLOS) and X-linked adrenoleukodystrophy. Smith-Lemli-Opitz Syndrome (SLOS) is an example of cholesterol synthesis defect; it causes congenital malformations (dysmorphisms), with a heterogeneous clinical presentation and affecting several metabolic pathways and organs due to accumulation of a toxic precursor of cholesterol. X-linked adrenoleukodystrophy is an interesting example of deficit in fatty acid metabolism, also classifiable as single peroxisomal enzyme deficiency. It proceeds towards a severe neurometabolic disease, often preceded by adrenal insufficiency, and it is partially treatable if diagnosed early.
Authors: Sabine Grønborg, Dorothea Haas, Anne Kalweit, Karin Mossler, Marc Engelen
The Diagnostic, Clinical and Therapeutic Education Programme on Inherited Metabolic Disorders. Module 08: Lipids & fatty acids 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 1,5 ECMEC® credits
