[Ludo Van Bogaert's cerebro-tendinous xanthomatosis. Apropos of 2 cases].
The authors report of two familial cases of Ludo Van Boggert cerebro-tendinous xanthomatosis. Biochemical studies carried out in one of the patients confirmed the work of Salen indicating that the disorder is due to an enzyme problem in the hepatic synthesis of primary bile acids from cholesterol (fault in the production and cholic and chenodesoxycholic acid an an increase in the synthesis of cholestanol).
D000328:Adult; D002635:Chenodeoxycholic Acid / Q000096:biosynthesis*; D002777:Cholestanols / Q000096:biosynthesis*; D002793:Cholic Acids / Q000096:biosynthesis*; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000235:genetics*; D008297:Male; D014973:Xanthomatosis / Q000235:genetics*
D002777:Cholestanols; D002793:Cholic Acids; D002635:Chenodeoxycholic Acid
Xanthomatose cérébro-tendineuse de Ludo Van Bogaert. A propos de deux observations.