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Abetalipoproteinemia

Basics

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Definition

Bassen-Kornzweig syndrome is a rare, inherited disease in which a person is unable to fully absorb dietary fats through the intestines.

Symptoms

  • Balance and coordination difficulties
  • Curvature of spine
  • Decreased vision that gets worse over time
  • Developmental delay
  • Failure to thrive (grow) in infancy
  • Muscle weakness
  • Poor muscle coordination that usually develops after age 10
  • Protruding abdomen
  • Slurred speech
  • Stool abnormalities, including:
    • Fatty stools that appear pale in color
    • Frothy stools
    • Abnormally foul-smelling stools
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