Cerebrotendinous xanthomatosis: a defect in cellular sterol biosynthetic control.
A mentally retarded woman with tendon xanthomata and normal serum cholesterol concentration was found to have raised cholestanol concentrations in the serum and in a xanthoma. This confirmed the diagnosis of cerebrotendinous xanthomatosis (CBX). No specific lipoprotein fraction was found to transport cholestanol. For the first time cultured fibroblasts from a patient with CBX were found to accumulate cholestanol.
D001927:Brain Diseases / Q000097:blood*; D002777:Cholestanols / Q000096:biosynthesis* / Q000097:blood; D002784:Cholesterol / Q000096:biosynthesis* / Q000097:blood; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D008875:Middle Aged; D009135:Muscular Diseases / Q000097:blood / Q000378:metabolism*; D013710:Tendons / Q000378:metabolism*; D014973:Xanthomatosis / Q000097:blood / Q000378:metabolism*
D002777:Cholestanols; D002784:Cholesterol