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Article

Sitosterolemia due to compound heterozygous mutations in ABCG5: a case report.

Journal of medical case reports - 28 Jan 2026

Wu Li-Li, Zhang Li, Tang Ting-Ting, Zhou Yuan-Yuan, Chang Xin-Xia, Guo Wei, Yan Hong-Mei, Lin Huan-Dong

Abstract excerpt

BACKGROUND: Sitosterolemia is an autosomal recessive genetic disorder characterized by hypercholesterolemia and tendon/hip xanthomas, primarily caused by pathogenic mutations in the ABCG5 or ABCG8 gene. CASE PRESENTATION: We report the clinical features and therapeutic outcomes of a 29-year-old Chinese male patient diagnosed with sitosterolemia. The patient first presented with xanthomas in childhood and...

Topics

Humans
Male
Hypercholesterolemia
Lipid Metabolism, Inborn Errors
Phytosterols
Intestinal Diseases
ATP Binding Cassette Transporter, Subfamily G, Member 5
Adult
Ezetimibe
Anticholesteremic Agents

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Heterozygote

Lipoproteins

Diet, Fat-Restricted

Xanthomatosis

Treatment Outcome

Source

Open in PubMed Open full text

Identifiers

PMID: 41606675
DOI: 10.1186/s13256-025-05814-x
PMCID: PMC12924262

Genes

ABCG5
ABCG8
NPC1L1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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