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Article

Cryptogenic Cirrhosis and Sitosterolemia: A Treatable Disease If Identified but Fatal If Missed.

Annals of hepatology - 1 Jan 2000

Bazerbachi Fateh, Conboy Erin E, Mounajjed Taofic, Watt Kymberly D, Babovic-Vuksanovic Dusica, Patel Shailendra B, Kamath Patrick S

Abstract excerpt

Sitosterolemia is an autosomal recessive metabolic disease caused by mutations in ABCG5 or ABCG8 genes which encode for the (ATP)-binding cassette (ABC) transporters that are responsible for the trafficking of xenosterols. Liver involvement is not a recognized manifestation of this disease, and cirrhosis has been reported only once in the medical literature. We describe a fatal case of a 21-year old South Asian...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to ATP Binding Cassette Transporter, Subfamily G, Member 5

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Source

Identifiers

PMID: 29055934
DOI: 10.5604/01.3001.0010.5290

Genes

ABCG5
ABCG8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Cryptogenic Cirrhosis and Sitosterolemia: A Treatable Disease If Identified but Fatal If Missed.PMID 29055934Read ↗

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Sitosterolemia due to compound heterozygous mutations in ABCG5: a case report.Semantic proximity Read ↗

First case of sitosterolemia caused by double heterozygous mutations in ABCG5 and ABCG8 genes.Semantic proximity Read ↗

Sitosterolemia with Double Variant in ABCG8 gene: A Case ReportSemantic proximity Read ↗

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