Overview

abetalipoproteinaemia


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An autosomal recessive defect (acanthocytosis, Bassen–Kornweig syndrome) in which there is total absence of apolipoprotein B (a component of LDL, VLDL, and chylomicrons) caused by a defect in microsomal triglyceride transfer protein. Common features are coeliac syndrome, pigmentary degeneration of the retina, progressive ataxic neuropathy, and the presence of acanthocytes.

Subjects: Medicine and Health — Chemistry.


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