Discovery of diagnostic markers for Niemann-Pick disease type C by focused metabolomics

Masamitsu Maekawa, Hiroaki Yamaguchi, Nariyasu Mano

Research output: Contribution to journalArticlepeer-review


Niemann-Pick disease type C(NPC) is an autosomal recessive inherited disorder caused by genetic mutation of NPC1 or NPC2 protein, which are involved in the transport and excretion of unesterified cholesterol incorporated into the lysosomal fraction. Although NPC is a highly lethal disease that has progressive central nervous system fallout, etc., it is possible to use a therapeutic drug that can improve the symptoms, so early treatment is desired. Therefore, although early diagnosis is important, it is difficult to discover NPC and to diagnose due to diversity of clinical symptoms and age of onset. From these backgrounds and the problems of conventional methods for diagnosis of NPC, the development of biomarker tests that can be more easily examined has attracted attention and some reports on plasma marker candidates are one after another. Because of this background, the authors are investigating on the development of a novel diagnostic method using noninvasively collectable urine. As a result, several kinds of conjugated cholesterol metabolites useful for diagnosis were found from NPC patient urine using liquid chromatography/electrospray ionization tandem mass spectrometry as a basic technique. In this review, we outline NPC briefly, especially laboratory methods, and introduce the results of the authors.

Original languageEnglish
Pages (from-to)161-168
Number of pages8
JournalJapanese Journal of Clinical Chemistry
Issue number2
Publication statusPublished - 2018 Apr 1


  • Conjugated cholesterol metabolites
  • Diagnostic markers
  • Focused metabolomics
  • Niemann-Pick disease type C

ASJC Scopus subject areas

  • Clinical Biochemistry


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