Use of determinations of 7-lathosterol (5 alpha-cholest-7-en-3 beta-ol) and other cholesterol precursors in serum in the study and treatment of disturbances of sterol metabolism, particularly cerebrotendinous xanthomatosis.
The sterol composition of sera from patients with cerebrotendinous xanthomatosis (CTX) was investigated by gas chromatographic analysis of saponified extracts, using a polar (CP Wax 52CB) and an apolar (CP Sil 5CB) capillary column. Apart from already known sterols, the presence of increased amounts of 8-lathosterol (5 alpha-cholest-8(9)-en-3 beta-ol) and significant amounts of 8-dehydrocholesterol (cholesta-5,8-dien-3 beta-ol) were noticed. The latter compound has not been detected previously in human serum and possibly represents a hitherto unknown cholesterol precursor. The apparently elevated levels of delta 8-sterols in CTX serum suggests partial inhibition of migration of the 8,9 double bond to the 7,8 position in this condition. The concentration of 7-lathosterol, an indicator of cholesterol production rate, is also highly elevated in CTX serum and quickly returns to normal values after oral bile acid therapy. Determinations of serum lathosterol are not only useful in the follow-up of therapy of CTX patients, but also in the follow-up of hypercholesterolemic patients treated with either HMG-CoA reductase inhibitors or bile acid sequestrants.
Wolthers
B G
BG
Central Laboratory for Clinical Chemistry, University Hospital, Groningen, The Netherlands.
Walrecht
H T
HT
van der Molen
J C
JC
Nagel
G T
GT
Van Doormaal
J J
JJ
Wijnandts
P N
PN
D000328:Adult; D001647:Bile Acids and Salts / Q000627:therapeutic use; D002784:Cholesterol / Q000096:biosynthesis / Q000097:blood*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D015223:Wolman Disease / Q000097:blood / Q000175:diagnosis* / Q000188:drug therapy
D001647:Bile Acids and Salts; C001521:lathosterol; D002784:Cholesterol