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Alternative NamesAbetalipoproteinemia; Acanthocytosis; Apolipoprotein B deficiency
Definition Return to top
Bassen-Kornzweig syndrome is a rare, inherited disease in which a person is unable to fully absorb dietary fats through the intestines.
Causes Return to top
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.
The defect makes the body unable to create lipoproteins (molecules of fat combined with protein). Persons with this condition are unable to properly digest fat and essential vitamins.
Symptoms Return to top
Exams and Tests Return to top
Tests that may be done to help diagnose this condition include:
Genetic testing may be available for mutations in the MTP gene.
Treatment Return to top
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. Linoleic acid supplements are also recommended.
To avoid intestinal symptoms, persons with this syndrome should not eat long-chain triglycerides and limit fat intake to 5 - 20 grams per day. The diet should contain no more than 5 daily ounces of lean meat, fish, or poultry. 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 doctor or nutritionist. They should be used with caution because they may cause liver damage.
Outlook (Prognosis) Return to top
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.
Possible Complications Return to top
When to Contact a Medical Professional Return to top
Call if your infant or child exhibits symptoms of this disease.
Prevention Return to top
High doses of fat soluble vitamins may be able to slow progression of some problems such as degeneration of the retina and decreased vision.
References Return to top
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.Update Date: 6/24/2007 Updated by: Chad Haldeman-Englert, MD, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed HealthcareNetwork.