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
