ArticleInternal medicine (Tokyo, Japan)2023
Children with Severe Hypercholesterolemia Caused by a Pathogenic Mutation in ABCG5.
Article in Internal medicine (Tokyo, Japan), 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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5 citing papers in PubMed, 4 citations in OpenAlex.
- Comparison of the effect of eight weeks of Rhythmic aerobic training and CX-WORX on cholesterol transport and inflammatory factors in obese women.Journal of education and health promotion · 2026Article
- Sitosterolemia carrying both ABCG5 and HBA gene mutations: a case report and review of the literature.Journal of medical case reports · 2025Review
- Assessment of ability of AlphaMissense to identify variants affecting susceptibility to common disease.European journal of human genetics : EJHG · 2024Article
- Putative Pathogenic Variants ofJournal of lipid and atherosclerosis · 2024Article
- Cardiovascular disease risk in patients with elevated LDL-C levels: FH vs. non-FH.Frontiers in cardiovascular medicine · 2024Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We herein present a case series of hypercholesterolemia caused by a pathogenic mutation in the ATP-binding cassette sub-family G member 5 (ABCG5). Three unrelated infantile patients who were breastfed and had extremely elevated low-density lipoprotein (LDL) cholesterol levels were referred to our hospital. Their LDL cholesterol levels decreased significantly after weaning. Panel sequencing revealed a pathogenic mutation in ABCG5 in each patient. An 8-year-old girl was also referred due to suspected familial hypercholesterolemia. Panel sequencing revealed a pathogenic mutation in ABCG5. A cholesterol-reduced diet alone significantly reduced the LDL cholesterol levels. Moreover, the administration of ezetimibe was found to be beneficial.
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