DISCRIMINATION OF SITOSTEROLEMIA IN A DRIED BLOOD SPOT

摘要

The present invention relates to a method for determining sitosterol metabolism disorder by simultaneously measuring relative concentrations of compounds associated with phytosterol and cholesterol metabolisms in the bloodstain. According to the present invention, the sitosterol metabolism disorder can be promptly determined with high accuracy through convenient sampling using a very small amount of bloodstain on paper. The method of the present invention can be utilized for newborn screening and preschool children, especially patients with xanthoma.