Abstract:
Disclosed herein is a method for discriminating sitosterolemia by simultaneously measuring relative concentrations of phytosterol and cholesterol metabolism-related compounds in a blood spot on the paper. According to the present disclosure, sitosterolemia may be quickly discriminated with high accuracy by simple sample collecting using a trace amount of blood spot stained on a paper, and it may be used for newborn screening and preschool children, particularly patients with xanthoma.