sitosterolemie
Sitosterolemia is a rare autosomal recessive genetic disorder that affects lipid metabolism. It is characterized by elevated levels of plant sterols, such as sitosterol and campesterol, in the blood and tissues. This condition is caused by mutations in the ABCG5 or ABCG8 genes, which are responsible for the ATP-binding cassette transporters G5 and G8. These transporters play a crucial role in mediating the efflux of dietary and biliary sterols from the intestinal enterocytes and hepatocytes back into the intestinal lumen.
Individuals with sitosterolemia typically present with symptoms related to the deposition of plant sterols in various
The diagnosis of sitosterolemia is usually made based on clinical presentation and confirmed by laboratory tests.
Treatment for sitosterolemia focuses on reducing the absorption of plant sterols and increasing their excretion. A