Abetalipoproteinemia Learning Center

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Welcome

Bassen-Kornzweig syndrome is a rare, inherited disease characterized by the inability to fully absorb dietary fats through the gut. It results in fatty stools, diarrhea, failure to thrive in infancy, and problems with n...

Basic Info

Symptoms
Balance and coordination difficulties; Curvature of spine; Decreased vision that gets worse over time; Developmental de...
Causes
Bassen-Kornzweig syndrome is an autosomal recessive condition that more often affects males, but can also affect girls....
Tests
Tests that may be done to help diagnose this condition include: Apolipoprotein B blood test; Blood tests to look for vi...
Treatments
Consult a nutritionist or other medical professional for dietary instruction. Large doses of vitamin supplements contai...
Drugs
  • phytonadione
  • vitamin A
  • vitamin E
Risk Factors
  • Male Gender
Complications
Blindness; Mental deterioration; Loss of function of peripheral nerves, ataxia.
Prevention
High doses of fat soluble vitamins may be able to slow progression of some problems such as degeneration of the retina ...
Doctor Specialties
Call if your infant or child exhibits symptoms of this disease.

Basic Info

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