Cookies on this website
We use cookies to ensure that we give you the best experience on our website. If you click 'Continue' we'll assume that you are happy to receive all cookies and you won't see this message again. Click 'Find out more' for information on how to change your cookie settings.

This article describes a rapid UPLC-MS/MS method to quantitate novel bile acids in biological fluids and the evaluation of their diagnostic potential in Niemann-Pick C (NPC). Two new compounds, NPCBA1 (3β-hydroxy,7β-N-acetylglucosaminyl-5-cholenoic acid) and NPCBA2 (probably 3β,5α,6β-trihydroxycholanoyl-glycine), were observed to accumulate preferentially in NPC patients: median plasma concentrations of NPCBA1 and NPCBA2 were 40- and 10-fold higher in patients than in controls. However, NPCBA1 concentrations were normal in some patients because they carried a common mutation inactivating the GlcNAc transferase required for the synthesis of this bile acid. NPCBA2, not containing a GlcNAc moiety, is thus a better NPC biomarker.

Original publication

DOI

10.1002/1873-3468.12196

Type

Journal article

Journal

FEBS Lett

Publication Date

06/2016

Volume

590

Pages

1651 - 1662

Keywords

Biomarkers, GlcNAc transferase, Niemann-Pick C, UPLC-MS/MS, bile acids, screening, Adolescent, Adult, Bile Acids and Salts, Biomarkers, Blood Chemical Analysis, Case-Control Studies, Child, Child, Preschool, Chromatography, High Pressure Liquid, Early Diagnosis, Humans, Infant, Middle Aged, Niemann-Pick Disease, Type C, Tandem Mass Spectrometry, Young Adult