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- n. A rare autosomal recessive disorder that interferes with the normal absorption of fat and fat-soluble vitamins from food.
from WordNet 3.0 Copyright 2006 by Princeton University. All rights reserved.
- n. a rare inherited disorder of fat metabolism; characterized by severe deficiency of beta-lipoproteins and abnormal red blood cells (acanthocytes) and abnormally low cholesterol levels
He has a figure outlining human chromosome 2 and the regions of this chromosome to which various diseases map, such as abetalipoproteinemia and Waardenburg syndrome.
Aside from abetalipoproteinemia, what other disorders may arise from derangements of lipoprotein function?
Patients with abetalipoproteinemia develop severe vitamin E deficiency because they are defective in three steps in this pathway: First, along with other fat soluble vitamins, the fat malabsorption decreases the absorption of vitamin E Second, the small amount of vitamin E that maybe absorbed can not be efficiently secreted by the intestine because of the defect in the chylomicron secretion.
Many of the signs and symptoms of abetalipoproteinemia result from a severe vitamin deficiency, especially vitamin E deficiency, which typically results in eye problems
The signs and symptoms of abetalipoproteinemia appear in the first few months of life.