Bassen-Kornzweig syndrome is a rare, inherited disease in which a person is unable to fully absorb dietary fats through the intestines.
Abetalipoproteinemia; Acanthocytosis; Apolipoprotein B deficiency
Bassen-Kornzweig syndrome is an autosomal recessive condition that more often affects males, but can also affect girls. It is caused by a defect in the microsomal triglyceride transfer protein (MTP) gene.
There may be damage to the retina of the eye (retinitis pigmentosa).
Tests that may be done to help diagnose this condition include:
Genetic testing may be available for mutations in the MTP gene.
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. Vitamin E especially helps to restore lipoproteins. Linoleic acid supplements are also recommended.
To avoid intestinal symptoms, do not eat long-chain triglycerides and limit your fat intake to 5 - 20 grams per day. Your diet should contain no more than 5 daily ounces of lean meat, fish, or poultry. Use skim milk instead of whole milk.
Because everyone needs a certain amount of fat for normal growth and development, medium-chain triglycerides are alternatively used as the major source of fat in the diet. Because these fats are absorbed from the gut differently than other fats, they can help patients avoid intestinal symptoms.
Medium-chain triglycerides are taken as a dietary supplement, typically under the supervision of a doctor or nutritionist. They should be used with caution because they may cause liver damage.
The outcome depends on the degree and progression of brain/nervous system (neurological) and visual problems. Severe forms of the disease lead to irreversible neurologic disease before age 30.
Call your health care provider if your infant or child has symptoms of this disease. Genetic counseling can help families understand the condition and the risks of inheriting it, and learn how to care for the patient.
High doses of fat-soluble vitamins may slow the progression of some problems, such as retina damage and decreased vision.
Rodriguez-Oquendo A, Kwiterovich Jr PO. Dyslipidemias. In: Fernandes J, Saudubray J-M, van den Berghe G, Walter JH, eds. Inborn metabolic diseases: diagnosis and treatment. Germany: Springer; 2006:400-401.