Sitosterolemia carrying both ABCG5 and HBA gene mutations: a case report and review of the literature

Abstract Background Mutations in the ABCG5 gene can cause sitosterolemia, which is a rare lipid metabolism disorder characterized by impaired regulation of phytosterols, leading to their excessive accumulation in tissues and organs, which triggers various complications. If left untreated, it may cau...

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Bibliographic Details

Published in:	Journal of Medical Case Reports
Main Authors:	Xiaobing Sun, Jiong Wu, Pu Chen, Ruiqing He, Ting Li, Qingwen Zeng, Qi Hou
Format:	Article
Language:	English
Published:	BMC 2025-08-01
Subjects:	Sitosterolemia Xanthomas Phytosterol Familial hypercholesterolemia
Online Access:	https://doi.org/10.1186/s13256-025-05439-0