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Abetalipoproteinemia is a genetic disorder that interferes with the intestines’ ability to absorb fats, cholesterol, and fat-soluble vitamins. Due to their lipid and vitamin deficiencies, people with this condition develop progressive symptoms that affect many important functions, predominantly vision, blood low, and the nervous and gastrointestinal systems. With early diagnosis and treatment, physicians can combat abetalipoproteinemia’s progression and improve prognosis.

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1. Cause

Abetalipoproteinemia is the result of mutations in the MTTP gene, which provides instructions for making MTP proteins that help create beta-lipoproteins that transport cholesterol, fats, and fat-soluble vitamins from the intestine and through the bloodstream for various tissues to absorb. The mutations render the body unable to create MTP proteins, without which the body cannot transport the nutrients; deficiencies develop, leading to health problems.

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