A useful multi-analyte blood test for cerebrotendinous xanthomatosis.

ABSTRACT:

Objectives

Cerebrotendinous xanthomatosis (CTX) is a rare genetic disorder of bile acid (BA) synthesis that can cause progressive neurological damage and premature death. Blood (normally serum or plasma) testing for CTX is performed by a small number of specialized laboratories, routinely by gas chromatography-mass spectrometry (GC-MS) measurement of elevated 5α-cholestanol. We report here on a more sensitive biochemical approach to test for CTX particularly useful for confirmation of CTX in the case of a challenging diagnostic sample with 5α-cholestanol that, although elevated, was below the cut-off used for diagnosis of CTX (10 μg/mL or 1.0 mg/dL).

Design and methods

We have previously described liquid chromatography-electrospray ionization-tandem mass spectrometry (LC-ESI

SUBMITTER: DeBarber AE 

PROVIDER: S-EPMC4175980 | biostudies-literature | 2014 Jun

REPOSITORIES: biostudies-literature