Abetalipoproteinemia

Overview

Abetalipoproteinemia: A rare disorder involving abnormalities in fat metabolism. The resulting insufficiency of fats and vitamins affect the normal development and function of the body

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  • Absence of apoprotein B-100
  • Acanthocytosis
  • Low/absent serum betalipoproteins
  • Hypercholesterolemia
  • Steatorrhea
  • Ataxia
  • Nystagmus
  • Motor incoordination
  • Retinitis pigmentosa
  • Neurological symptoms
  • Muscle weakness
  • Balance problems
  • Degeneration of the retina
  • Loss of vision

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