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Ency. home > Disease > B > Bassen-Kornzweig syndrome

Bassen-Kornzweig syndrome   

Overview | Symptoms | Treatment | Prevention

Alternative names:

Abetalipoproteinemia; Acanthocytosis; Apolipoprotein B deficiency

Symptoms

Signs and Tests

  • CBC that shows abnormally shaped red blood cells (thorny appearance)
  • Cholesterol studies, including total cholesterol that shows low levels VLDL and LDL
  • Stool collection that shows elevated fat levels
  • Low levels of fat-soluble vitamins such as Vitamins A,D,E or K
  • Ophthalmology exam shows retinal degeneration
  • Absent or low apolipoprotein B levels in blood
  • Genetic testing may be available for mutations in the APOB or MTP genes
  • EMG or nerve conduction velocity testing may show demyelination of peripheral nerves

Ency. home > Disease > B > Bassen-Kornzweig syndrome

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