Sitosterolemia.
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.
Salen
G
G
Department of Medicine, UMD-New Jersey Medical School, Newark 07103.
Shefer
S
S
Nguyen
L
L
Ness
G C
GC
Tint
G S
GS
Shore
V
V
D002784:Cholesterol / Q000097:blood; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000097:blood* / Q000628:therapy; D012855:Sitosterols / Q000097:blood*
D012855:Sitosterols; D002784:Cholesterol