Synthesis and structure of 26 (or 27)-nor-5 beta-cholestane-3 alpha,7 alpha,12 alpha,24S,25 xi-pentol isolated from the urine and feces of a patient with sitosterolemia and xanthomatosis.
The urine and feces of a patient with the rare inherited lipid storage disease, sitosterolemia and xanthomatosis, were analyzed. Substantial quantities of C26-bile alcohol, 26 (or 27)-nor-5 beta-cholestane-3 alpha,7 alpha,12 alpha,24S,25 xi-pentol along with 5 beta-cholestane-3 alpha,7 alpha,12 alpha,24-tetrol, 5 beta-cholestane-3 alpha,7 alpha,12 alpha,25-tetrol, 5 beta-cholestane-3 alpha,7 alpha,12 alpha,24R,25-pentol, and 5 beta-cholestane-3 alpha,7 alpha,12 alpha,25,26-pentol were found. The structure of the C26-bile alcohol was confirmed by direct comparison (gas-liquid chromatography-mass spectrometry and thin-layer chromatography) with a standard sample synthesized from cholic acid. The configurational assignment at C-24 was determined by lanthanide-induced circular dichroism Cotton effect measurements. The increased excretion of these C26- and C27-bile alcohols suggests an abnormality of bile acid biosynthesis in this disease.
Dayal
B
B
Tint
G S
GS
Toome
V
V
Batta
A K
AK
Shefer
S
S
Salen
G
G
D000293:Adolescent; D055598:Chemical Phenomena; D002621:Chemistry; D002627:Chemistry, Physical; D002777:Cholestanols / Q000138:chemical synthesis / Q000302:isolation & purification* / Q000652:urine; D002849:Chromatography, Gas; D002855:Chromatography, Thin Layer; D002942:Circular Dichroism; D005243:Feces / Q000032:analysis; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000378:metabolism* / Q000652:urine; D010084:Oxidation-Reduction; D010504:Periodic Acid; D012855:Sitosterols / Q000097:blood*; D014973:Xanthomatosis / Q000378:metabolism* / Q000652:urine
D002777:Cholestanols; D012855:Sitosterols; D010504:Periodic Acid; C030249:27-norcholestane-3,7,12,24,25-pentol; C009288:metaperiodate