abetalipoproteinemia
IPA: ʌbˈɛtʌɫɪpʌprˈoʊtinˈimiʌ
noun
- (pathology) A rare autosomal recessive disorder that interferes with the normal absorption of fat and fat-soluble vitamins from food.
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Examples of "abetalipoproteinemia" in Sentences
- The signs and symptoms of abetalipoproteinemia appear in the first few months of life.
- Aside from abetalipoproteinemia, what other disorders may arise from derangements of lipoprotein function?
- 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.
- Many of the signs and symptoms of abetalipoproteinemia result from a severe vitamin deficiency, especially vitamin E deficiency, which typically results in eye problems
- 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.