Disease

Abetalipoproteinemia1, 2

Gene

MTTP

Inheritance AR
Current Treatments low-fat diet with supplementation of fat-soluble vitamins (A, D, E, and K) and oral essential fatty acid supplementation
Evidence for Treatment expert opinion
Non-Molecular Testing Availability yes
Non-Molecular Test LDL-cholesterol, triglyceride, and apo B levels3
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=Abetalipoproteinemia&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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