Abetalipoproteinemia

This is an autosomal recessive condition with abnormal lipid metabolism, retinitis pigmentosa, neurological deterioration, and acanthocytosis (abnormal red blood cells). The intestines and liver are unable to synthesize triglyceride-rich lipoproteins, chylomi-crons, and very low-density lipoprotein. As a result, there is steatorrhea due to malabsorption of fat together with malabsorption of fat-soluble vitamins. Symptoms can be corrected by substitution of the normal fat intake with medium-chain triglycerides and polyunsaturated fat as corn oil. As they grow older, patients may be able to increase their fat intake. High-dose oral supplementation of fat-soluble vitamins, especially vitamin E, is mandatory from a young age because lack of these vitamins can cause progressive neurological and retinal deterioration.

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