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  1. Autosomal recessive inheritanceQ
  2. Characterized by fat malabsorption, spinocerebellar degeneration and pigmentad retinopathy.
  3. Biochemical hallmark of the disease is the strikingly abnormal plasma lipid and lipoprotein profile. Q
    1. Absence of apoprotein B
    2. Total cholesterol and triglyceride levels are extremely low
    3. No detectable plasma chylomicrons, VLDL, LDL
  4. Begins in childhood with steatatorrea and failure to thrive.
  5. Stools are pale, foul smelling, abdomen distension.
  6. After 10 years of age intestinal symptoms are less severe ataxia develops, intentional tremors, loss of position and vibration (reflect posterior columns, cerebellum and basal ganglia involvement)
  7. In adolescent retinitis pigmentosa develop. 


  1. Acanthocytes in peripheral blood smear. Q
  2. Extremly low plasma level of cholesterol, triglyceride, apoprotein B.
  3. Vitamin E level is undetectable in the serum of patient with neurological symptoms. Q

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