Identification of 3α,7α,12α-trihydroxy-5β-cholestan-26-oic acid, an intermediate in cholic acid synthesis, in the plasma of patients with infantile Refsum's disease

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Abstract
The plasma bile acid profiles of three children with the inherited metabolic disorder, infantile Refsum's disease, were found to contain 3α,7α,12α-trihydroxy-5β-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.