Investigation of diagnostic performance of five urinary cholesterol metabolites for Niemann-Pick disease type C.

ABSTRACT: Niemann-Pick disease type C (NPC) is an autosomal recessive disorder characterized by progressive nervous degeneration. Because of the diversity of clinical symptoms and onset age, the diagnosis of this disease is difficult. Therefore, biomarker tests have attracted significant attention for earlier diagnostics. In this study, we developed a simultaneous analysis method for five urinary conjugated cholesterol metabolites, which are potential diagnostic biomarkers for a rapid, convenient, and noninvasive chemical diagnosis, using LC/MS/MS. By the method, their urinary concentrations were quantified and the NPC diagnostic performances were evaluated. The developed LC/MS/MS method showed high accuracy and satisfied all analytical method validation criteria. When the urine of healthy controls

SUBMITTER: Maekawa M 

PROVIDER: S-EPMC6889718 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature