Sitosterolemia

Definition:

Sitosterolemia is an autosomal recessive lipid disorder caused by mutation in the ABC transporter gene and characterized by elevated plasma levels of plant sterols due to increased intestinal absorption and reduced biliary secretion of neutral sterols.

References:

[1]. M H Lee, et al. Genetic basis of sitosterolemia. Curr Opin Lipidol. 2001 Apr;12(2):141-9. [Content Brief]

[2]. T Sudhop, et al. Sitosterolemia--a rare disease. Are elevated plant sterols an additional risk factor?. Z Kardiol. 2004 Dec;93(12):921-8. [Content Brief]

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