Biomarker analysis of Niemann-Pick disease type C using chromatography and mass spectrometry

•Simple laboratory tests have been desired for NPC diagnosis.•Various biomarkers for NPC have been reported over the last decade.•NPC biomarkers are mainly categorized as lipid metabolites.•Various chemical analysis methods have been used to identify NPC biomarkers.•Chromatography and mass spectrometry have been used to quantify NPC biomarkers. Niemann-Pick disease type C (NPC) is an autosomal recessive disorder with progressive degradation of central nervous system. The age of the onset varies from perinatal to adulthood. Patients with NPC are affected in the central nervous system, peripheral nerves, and systemic organs. From these background, it is extremely difficult to discover NPC clinically and diagnose it correctly. The procedure of the conventional laboratory methods are complicated and it takes long time to obtain the result. Because of the importance of early treatments and the shortcomings of conventional diagnostic methods for NPC, remarkable attention has been paid to biomarkers and chemical diagnoses. In the last decade, many NPC biomarkers have been reported. They are classified as cholesterol-related metabolites, sphingolipid metabolites, and novel phospholipid metabolites, respectively. Therefore, these are all lipid metabolites. Various chemical analysis methods have been used for their identification. In addition, chromatography and mass spectrometry are mainly used for their quantification. This review article outlines NPC biomarkers reported in the last decade and their analytical methods.