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.
Symptoms:
Balance and coordination difficulties
Curvature of spine
Decreased vision that gets worse over time
Developmental delay
Failure to thrive (grow) in infancy
Muscle weakness
Poor muscle coordination that usually develops after age 10
Genetic testing may be available for mutations in the MTP gene.
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.
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 2002 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
General Pediatrics
