title: Sitosterolemia.
abstract: Sitosterolemia is a rare inherited lipid storage disease characterized chemically by the accumulation of plant sterols and 5 alpha-saturated stanols in plasma and tissues. Very low cholesterol synthesis due to a deficiency of HMG-CoA reductase associated with increased intestinal plant sterol absorption and slow hepatic sterol removal are major biochemical features. Because cholesterol synthesis cannot up-regulate, bile acid malabsorption mobilizes body sterols for bile acid synthesis and dramatically lowers plasma and monocyte sterol concentrations and may halt the progression of the atherosclerotic process.
authors.affiliation: Department of Medicine, UMD-New Jersey Medical School, Newark 07103.
authors.forename: G
authors.initials: G
authors.lastname: Salen
authors.forename: S
authors.initials: S
authors.lastname: Shefer
authors.forename: L
authors.initials: L
authors.lastname: Nguyen
authors.forename: G C
authors.initials: GC
authors.lastname: Ness
authors.forename: G S
authors.initials: GS
authors.lastname: Tint
authors.forename: V
authors.initials: V
authors.lastname: Shore
mesh_terms: D002784:Cholesterol / Q000097:blood; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000097:blood* / Q000628:therapy; D012855:Sitosterols / Q000097:blood*
chemical_list: D012855:Sitosterols; D002784:Cholesterol