Abetalipoproteinemia is a rare genetic disorder that interferes with the normal absorption of fat and fat soluble vitamins from food.

Features

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This disorder leads to a multiple vitamin deficiency, affecting the fat soluble vitamin A, vitamin D, vitamin E, and vitamin K. However, many of the observed effects are due to vitamin E deficiency in particular.

Diagnosis

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The inability to absorb fat in the ileum will result in steatorrhea, or fat in the stool. As a result, this can be clinically diagnosed when foul smelling stool is encountered. Low plasma chylomicron levels are also characteristic.

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