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Bassen-Kornzweig syndrome

Alternative Names:
Abetalipoproteinemia; Acanthocytosis; Apolipoprotein B deficiency

Treatment:

Consult a nutritionist or other medical professional for dietary instruction. Large doses of vitamin supplements containing the fat-soluble vitamins (vitamin A, vitamin D, vitamin E and vitamin K) are given.

To avoid intestinal symptoms, avoid eating long-chain triglycerides. Thus, the diet should contain no more than 5 ounces of lean meat, fish, or poultry per day. Use skim milk instead of whole milk.

Since a certain amount of fat is needed for normal growth and development in all people, medium chain triglycerides are alternatively used as the major source of fat in the diet. These are absorbed from the gut differently than other fats, and thus avoid the intestinal symptoms. Medium chain triglycerides are taken as a dietary supplement, typically under the supervision of a physician or nutritionist.



Expectations (prognosis):

The outcome is related to the degree and progression of neurological and visual problems. Severe forms of the disease lead to irreversible neurologic disease before age 30.



Complications:
  • Blindness
  • Mental deterioration
  • Loss of function of peripheral nerves, ataxia


Calling your health care provider:

Call if your infant or child exhibits symptoms of this disease.




Review Date: 4/20/2005
Reviewed By: Neal Sondheimer, M.D., PhD., Division of Genetics and Metabolism, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 2004 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.

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