MSACL 

30. Quantification of 7alpha-Hydroxy-4-cholesten-3-one, a Disease Marker for Cerebrotendinous Xanthomatosis, in Human Plasma using Novel Derivatization Chemistry and LC-MS/MS
Tue 4:54 PM - PosterSplash Track 3
Andrea DeBarber
Oregon Health & Science University
View Long Abstract
We describe a novel method for analysis of the keto sterol 7alpha-hydroxy-4-cholesten-3-one (7alphaC4) in plasma. This keto sterol is present at very high concentrations in the plasma of patients affected with the neurodegenerative disease Cerebrotendinous Xanthomatosis (CTX) and 7alphaC4 demonstrates improved utility over cholestanol as a diagnostic marker and to effectively monitor treatment. The method we describe here utilizes derivatization chemistry to enable sensitive LC-ESI-MS/MS analysis of 7alphaC4. Measurement is across a range that encompasses the concentrations found in healthy controls (6-60.7ng/mL), as well as in CTX patients, enabling the method to be utilized for a variety of clinical purposes.
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