Ontology highlight
ABSTRACT:
SUBMITTER: Ajagbe BO
PROVIDER: S-EPMC4514516 | biostudies-literature | 2015 May-Jun
REPOSITORIES: biostudies-literature
Ajagbe Bridget O BO Othman Rgia A RA Myrie Semone B SB
Journal of AOAC International 20150504 3
Phytosterolemia (sitosterolemia) is a rare autosomal recessive sterol storage disease caused by mutations in either of the adenosine triphosphate (ATP) binding cassette transporter genes; (ABC) G5 or ABCG8, leading to impaired elimination of plant sterols and stanols, with their increased accumulation in the blood and tissues. Thus the disease is characterized by substantially elevated serum plant sterols and stanols, with moderate to high plasma cholesterol levels, and increased risk of prematu ...[more]