C27-BILE ACIDS IN INFANTS WITH COPROSTANIC ACIDEMIA AND OCCURRENCE OF A 3-ALPHA, 7-ALPHA, 12-ALPHA-TRIHYDROXY-5-BETA-C29 DICARBOXYLIC BILE-ACID AS A MAJOR COMPONENT IN THEIR SERUM

Three children with neurological, dysmorphic and cholestatic symptoms of variable degree and with elevated amounts of coprostanic acids and a C29 dicarboxylic bile acid in their serum are described. One of the patients had all the symptoms of the Zellweger syndrome. Trihydroxycoprostanic acid (3α,7α,12α‐trihydroxy‐5β‐cholestan‐26‐oic acid) was a major component of the bile acids in bile (21.3%–37.0%), serum (17.3%–21.5%), urine (14.4%–29.5%) and feces (15.0%–75.3%). Considerable amounts of dihydroxycoprostanic acid (3α,7α‐dihydroxy‐5β‐cholestan‐26‐oic acid) were found in bile (6.0%–8.6%), serum (8.2%–26.6%), urine (3.9%) and feces (7.5%–15.7%). Small amounts of 3α‐hydroxy‐5β‐cholestan‐26‐oic acid (in serum), 3β‐hydroxy‐5‐cholesten‐26‐oic acid (in serum and bile) and varanic acid (in bile) were identified. Minor quantities of other C27 bile acids and bile alcohols were only tentatively characterized. The common C24 bile acids, cholic acid and chenodeoxycholic acid, were strongly decreased in duodenal fluid, but elevated amounts were found in serum. Serum of these patients also contained important amounts of a C29 bile acid (27.6%–41.3%). The mass spectrum of this bile acid suggested that it was a 3α,7α,12α‐trihydroxy‐5β‐C29 dicarboxylic bile acid. The compound contains a normal trihydroxy bile acid nucleus, the two additional carbon atoms and the two carboxyl groups being located in the side chain. Although the C29 dicarboxylic bile acid was a predominating component of the bile acids in serum, only small amounts were detected in bile or urine. Copyright © 1979, Wiley Blackwell. All rights reserved