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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




Journal article



Publication Date





1651 - 1662


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