Bassen-Kornzweig syndrome

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Abetalipoproteinemia; Acanthocytosis; Apolipoprotein B deficiency

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.

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.

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

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

Review Date: 04/20/2005
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.