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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
Author(s) -
Poulos A.,
Whiting M. J.
Publication year - 1985
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01805476
Subject(s) - cholic acid , zellweger syndrome , endocrinology , bile acid , medicine , metabolism , chemistry , metabolic disease , biochemistry , peroxisome , receptor
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.