from Wiktionary, Creative Commons Attribution/Share-Alike License.
- noun A rare
autosomal recessive disorderthat interferes with the normal absorptionof fatand fat-soluble vitaminsfrom food.
from WordNet 3.0 Copyright 2006 by Princeton University. All rights reserved.
- noun 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
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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.
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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.