Ontology highlight
ABSTRACT:
SUBMITTER: Yamada Y
PROVIDER: S-EPMC8413244 | biostudies-literature | 2021 Aug
REPOSITORIES: biostudies-literature
Yamada Yoshihiro Y Sugi Keiki K Gatate Yodo Y Senbonmatsu Takaaki T Inoue Ikuo I Fukushima Kenji K Iguchi Atsushi A Nakajima Hiroyuki H Muramatsu Toshihiro T Nakano Shintaro S Tada Hayato H
CJC open 20210504 8
Sitosterolemia is a rare, inherited, autosomal recessive disorder of lipid metabolism characterized by increased levels of plant sterols, such as sitosterol and campesterol, xanthomas, and accelerated atherosclerosis. In a 15-year-old boy exhibiting ST-elevation acute myocardial infarction, lipid panels, including plant sterol, and genetic testing for the <i>ATP-binding cassette sub-family G member 5 (ABCG5)</i> gene mutation, confirmed the diagnosis of sitosterolemia. A comprehensive lipid pane ...[more]