abetalipoproteinemia

A disorder characterized by an absence of low-density beta-lipoprotein, presence of acanthocytes in blood, retinal pigmentary degeneration, malabsorption, engorgement of upper intestinal absorptive cells with dietary triglycerides, and neuromuscular abnormalities; autosomal recessive inheritance, caused by mutation in the gene encoding microsomal triglyceride transfer protein (MTP) on chromosome 4q. SYN: Bassen-Kornzweig syndrome. [G. a-, priv., + β, + lipoprotein + -emia, blood]

- normotriglyceridemic a. a. with normal levels of triglycerides. This inherited disorder (possibly autosomal recessive) is probably due to the absence of apolipoprotein B-100.

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abeta·lipo·pro·tein·emia (a-ba″tə-lip″o-pro″te-neґme-ə) an autosomal recessive disorder of lipoprotein metabolism (gene locus: 4q22-q24) in which lipoproteins containing apolipoprotein B (chylomicrons, very-low-density lipoproteins, and low-density lipoproteins) are not synthesized; it is characterized by acanthocytes in plasma, hypocholesterolemia, progressive ataxic neuropathy, pigmentary retinal degeneration, defective intestinal lipid absorption, and deficiency of fat-soluble vitamins.