title: 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.
abstract: 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.
authors.forename: A
authors.initials: A
authors.lastname: Poulos
authors.forename: M J
authors.initials: MJ
authors.lastname: Whiting
mesh_terms: 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*
chemical_list: 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