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Sitosterolemia

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Dr.Mungli

Sitosterolemia (also known as "Phytosterolemia") is a rare autosomal recessively inherited lipid disorder. It is because of the mutation in genes ABCG5 and ABCG8 that code for sterolin. Mutation in sterolin genes lead to decreased intestinal and biliary excretion of dietary sterol (including the plant sterol that is sitosterol). Healthy persons absorb only about 5% of dietary plant sterols, but sitosterolemia patients absorb 15% to 60% of ingested sitosterol without excreting much into the bile. The phytosterol campesterol is more readily absorbed than sitosterol. Sitosterolemia patients develop hypercholesterolemia, tendon and tuberous xanthoma, premature development of atherosclerosis, and hemolytic anemia.

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   • Lipoprotein Metabolism (Chylomicrons,...  

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