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Article

Sitosterolemia caused by compound heterozygosis of 2 allelic variants in the ABCG5 gene-21 years of follow-up.

Journal of clinical lipidology - 1 Jan 2025

Coutinho Jean G V, Costa Ana C S, Issa Milka M M, Paim Neiva P, Quedas Elisangela P S, Nunes Valeria S, Jorge Alexander A L, Nakandakare Edna R, Carrilho Alexandre J F

Abstract excerpt

BACKGROUND: Sitosterolemia is a rare autosomal recessive disease characterized by elevated phytosterol levels in the bloodstream and tissues due to increased absorption and reduced biliary excretion. This condition arises from mutations in one of two genes, ABCG5 or ABCG8, located on chromosome 2p21. OBJECTIVE: We report the case of a patient, and his first-degree relatives, diagnosed with sitosterolemia at the...

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Share to ATP Binding Cassette Transporter, Subfamily G, Member 5
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heterozygote

Share to Hypercholesterolemia

Share to Intestinal Diseases

Share to Lipid Metabolism, Inborn Errors

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Source

Identifiers

PMID: 40695672
DOI: 10.1016/j.jacl.2025.06.007

Genes

ABCG5
ABCG8

Variants

rs781098379

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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