Abetalipoproteinemia
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Abetalipoproteinemia is a rare genetic disorder that interferes with the normal absorption of fat and fat soluble vitamins from food.
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Features
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
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.
Pathophysiology
Two genes have been identified in which mutations are associated with this disorder: microsomal triglyceride transfer protein (MTT) and apolipoprotein B (ApoB).
There is an absence of betalipoprotein B. On intestinal biopsy, vacuoles containing lipids are seen in enterocytes. Since there is no or little assimilation of chylomicrons, their levels in plasma remains low.
Treatment
Treatment with Vitamin E is recommended.