About Abetalipoproteinemia
Abetalipoproteinemia is caused by mutations in the MTTP gene encoding microsomal triglyceride transfer protein, which is essential for assembling apolipoprotein B-containing lipoproteins. This leads to near-zero plasma levels of LDL, VLDL, and chylomicrons, and severe malabsorption of fat-soluble vitamins. Clinical features include fat malabsorption, progressive spinocerebellar ataxia (due to vitamin E deficiency), retinitis pigmentosa, and acanthocytosis.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Abetalipoproteinemia trials.
Plasma cholesterol, LDL, and apolipoprotein B levels near zero are diagnostic hallmarks required for enrollment
Vitamin E status (plasma alpha-tocopherol) is both a monitoring biomarker and reflects treatment adherence
High-dose fat-soluble vitamin supplementation (A, D, E, K) is standard care — document current supplementation regimen
Acanthocyte percentage on peripheral blood smear is a required baseline hematological marker
Patient Resources
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