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Bassen-Kornzweig syndrome

Definition:

Bassen-Kornzweig syndrome is a rare, inherited disease in which a person is unable to fully absorb dietary fats through the intestines.

Alternative Names:

Abetalipoproteinemia; Acanthocytosis; Apolipoprotein B deficiency

Causes, incidence, and risk factors:

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.

References:

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.

Review Date: 6/24/2007
Reviewed By: Chad Haldeman-Englert, MD, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed HealthcareNetwork.

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