Identification of 3 alpha,7 alpha,12 alpha-trihydroxy-5 beta-cholestan-26-oic acid, an intermediate in cholic acid synthesis, in the plasma of patients with infantile Refsum's disease.
The plasma bile acid profiles of three children with the inherited metabolic disorder, infantile Refsum's disease, were found to contain 3 alpha,7 alpha,12 alpha-trihydroxy-5 beta-cholestan-26-oic acid. This intermediate in the synthesis of cholic acid was identified by combined gas-liquid chromatography-mass spectrometry and accounted for approximately 25% of the total bile acids which were present at elevated concentrations in plasma. Infantile Refsum's disease appears to share several biochemical features with the cerebro-hepato-renal syndrome (Zellweger's disease), including abnormal bile acid metabolism.
Poulos
A
A
Whiting
M J
MJ
D001647:Bile Acids and Salts / Q000097:blood; D002777:Cholestanols / Q000097:blood*; D019826:Cholic Acid; D002793:Cholic Acids / Q000096:biosynthesis*; D002849:Chromatography, Gas; D005227:Fatty Acids / Q000378:metabolism; D006801:Humans; D013058:Mass Spectrometry; D008661:Metabolism, Inborn Errors / Q000097:blood; D010875:Pipecolic Acids / Q000378:metabolism; D012035:Refsum Disease / Q000097:blood*
D001647:Bile Acids and Salts; D002777:Cholestanols; D002793:Cholic Acids; D005227:Fatty Acids; D010875:Pipecolic Acids; C022069:3,7,12-trihydroxycholestan-26-oic acid; D019826:Cholic Acid