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abetalipoproteinemia

Definitions

from Wiktionary, Creative Commons Attribution/Share-Alike License

  • 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

Etymologies

From Ancient Greek a- ("not") + βῆτα (beta, "second") + lipoprotein + αἷμα (haima, "blood"). (Wiktionary)

Examples

  • 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?

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  • 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.

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  • Many of the signs and symptoms of abetalipoproteinemia result from a severe vitamin deficiency, especially vitamin E deficiency, which typically results in eye problems

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  • The signs and symptoms of abetalipoproteinemia appear in the first  few months of life.

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