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abetalipoproteinemia
(redirected from Betalipoprotein Deficiency Disease)

    Also found in: Wikipedia 0.06 sec.
abetalipoproteinemia /abeta·lipo·pro·tein·emia/ (a-ba?tah-lip?o-pro?te-ne´me-ah) a hereditary syndrome marked by a lack of lipoproteins that contain apolipoprotein B (chylomicrons, very-low-density lipoproteins, and low-density lipoproteins) in the blood and by acanthocytosis, hypocholesterolemia, progressive ataxic neuropathy, atypical retinitis pigmentosa, and malabsorption.
normotriglyceridemic abetalipoproteinemia  a variant form in which apolipoprotein (apo) B-48 is present but apo B-100 is absent; chylomicrons are formed, and some fat absorption may occur.
a·be·ta·lip·o·pro·tein·e·mi·a (-bt-lp-prt-nm-, -t--n-)
n.
An inherited disorder characterized by the absence of low-density lipoproteins in the plasma, the presence of acanthocytes in the blood, retinal pigmentary degeneration, malabsorption of fats, and neuromuscular abnormalities. Also called Bassen-Kornzweig syndrome.
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