Sitosterolemia.

G Salen, S Shefer, L Nguyen, GC Ness, GS Tint… - Journal of lipid …, 1992 - ASBMB
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 …