Biochemical studies of inherited diseases related to abnormal cholesterol metabolism. II: Absence of unusual C28 and C29 bile acid homologs in bile and urine of sitosterolemia.

Bile acids, bile alcohols and sterols excreted in bile and urine from a patient with sitosterolemia were studied. Glycine- and taurine-conjugated cholic acid, deoxycholic acid and chenodeoxycholic acid were identified as the major constituents of both the bile and urine. Lesser amounts of unconjugated cholic acid and 3 alpha, 7 alpha, 12 alpha, 24-tetrahydroxy-5 beta-cholestan-26-oic acid were found in the bile, but cholic acid was the only unconjugated bile acid in the urine. Relatively high proportions of campesterol and sitosterol compared to cholesterol were excreted in the bile, while cholesterol was the only sterol detected in the urine. Bile alcohols were not detected in the bile, but the following bile alcohols were excreted in the urine as glucurono-conjugates: 5 beta-cholestane-3 alpha,7 alpha,12 alpha,25-tetrol; 27-nor-5 beta-cholestane-3 alpha,7 alpha,12 alpha,24,25-pentol; 5 beta-cholestane-3 alpha,7 alpha,12 alpha,23,25-pentol; 5 beta-cholestane- 3 alpha,7 alpha,12 alpha,24,25-pentol; 5 beta-cholestane- 3 alpha,7 alpha,12 alpha,25,26-pentol. In neither the bile nor urine, were C28 and C29 bile acid homologs detected. Thus, the main route for the excretion of plant sterols in sitosterolemia is thought to be secretion into the bile as neutral sterols.