Investigation of diagnostic performance of five urinary cholesterol metabolites for Niemann-Pick disease type C [Patient-Oriented and Epidemiological Research]

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 and patients with NPC was analyzed, three of five urinary conjugated cholesterol metabolite concentrations corrected by urinary creatinine were significantly higher in the patients with NPC. As a result of receiver operating characteristics analysis, these urinary metabolites might have excellent diagnostic marker performance. 3β-Sulfooxy-7β-hydroxy-5-cholenoic acid showed particularly excellent diagnostic performance with both 100% clinical sensitivity and specificity, suggesting that it is a useful NPC diagnostic marker. The urinary conjugated cholesterol metabolites exhibited high NPC diagnostic marker performance and could be used for NPC diagnosis.

Source: The Journal of Lipid Research - December 1, 2019 Category: Lipidology Authors: Maekawa, M., Jinnoh, I., Narita, A., Iida, T., Saigusa, D., Iwahori, A., Nittono, H., Okuyama, T., Eto, Y., Ohno, K., Clayton, P. T., Yamaguchi, H., Mano, N. Tags: Patient-Oriented and Epidemiological Research Source Type: research