Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease

FEBS Lett. 2016 Jun;590(11):1651-62. doi: 10.1002/1873-3468.12196. Epub 2016 May 27.


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.

Keywords: Biomarkers; GlcNAc transferase; Niemann-Pick C; UPLC-MS/MS; bile acids; screening.

Publication types

  • Validation Study

MeSH terms

  • Adolescent
  • Adult
  • Bile Acids and Salts / blood*
  • Bile Acids and Salts / isolation & purification
  • Biomarkers / blood*
  • Blood Chemical Analysis / methods
  • Case-Control Studies
  • Child
  • Child, Preschool
  • Chromatography, High Pressure Liquid / methods
  • Early Diagnosis
  • Humans
  • Infant
  • Middle Aged
  • Niemann-Pick Disease, Type C / blood*
  • Niemann-Pick Disease, Type C / diagnosis*
  • Tandem Mass Spectrometry / methods
  • Young Adult


  • Bile Acids and Salts
  • Biomarkers