ESPE Abstracts

Background: Sitosterolemia, a rare autosomal recessive defect in lipid metabolism, is caused by mutations in the transporter genes ABCG5 and ABCG8 coding receptors on the luminal surface of enterocytes. Thus, hyperabsorption of non-digestible plant sterol in tissue and blood resulting in cardiovascular (CVD) sequalae. Here we report a case of Sitosterolaemia incidentally diagnosed on whole exome sequencing (WES) for bony lesions in a young Saudi girl with asym...