ABCG5-related dysregulation of phytosterol metabolism and growth impairment: a family-based observational study.

Abstract excerpt

Sitosterolemia is classically described as an autosomal recessive disorder caused by biallelic pathogenic variants in ABCG5 or ABCG8. Emerging evidence suggests that heterozygous carriers may exhibit subtle biochemical or clinical features, prompting a re-evaluation of its inheritance paradigm. This study aimed to characterize the clinical and biochemical phenotypes-particularly childhood linear growth and plasma...

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• ATP Binding Cassette Transporter, Subfamily G, Member 5
• Heterozygote
• Hypercholesterolemia
• Intestinal Diseases
• Lipid Metabolism, Inborn Errors