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

Key Points

• Sitosterolemia is caused by mutations in the ABCG5 gene, impacting lipid metabolism.
• A compound heterozygous mutation in ABCG5 leads to abnormal sitosterol accumulation in the body.
• Clinical analysis reveals elevated cholesterol and plant sterol levels, implicating lipid abnormalities.
• Genetic testing is essential for early diagnosis and management of sitosterolemia.