abetalipoproteinemia

A disorder characterized by an absence from plasma of low density lipoproteins that migrate electrophoretically as beta globules, presence of acanthocytes in blood, retinal pigmentary degeneration, malabsorption, engorgement of upper intestinal absorptive cells with dietary triglycerides, and neuromuscular abnormalities; autosomal recessive inheritance. Syn: Bassen-Kornzweig syndrome.

Origin

normotriglyceridemic abetalipoproteinemia


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