Abetalipoproteinemia; Acanthocytosis; Apolipoprotein B deficiency
Bassen-Kornzweig syndrome is a rare disease passed down through families. The person is unable to fully absorb dietary fats through the intestines.
Bassen-Kornzweig syndrome is caused by a defect in a gene that tells the body to create lipoproteins (molecules of fat combined with protein). The defect makes it hard for the body to properly digest fat and essential vitamins.
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.
Linoleic acid supplements are also recommended.
People with this condition should talk to a nutritionist. Diet changes are needed to prevent stomach problems. This may involve limiting intake of some types of fat.
Supplements of medium-chain triglycerides are taken under the supervision of a health care provider. They should be used with caution, because they may cause liver damage.
How well a person does depends on the amount of brain and nervous system problems.
Complications may include:
Call your 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 person.
High doses of fat-soluble vitamins may slow the progression of some problems, such as retina damage and decreased vision.
Branski D. Disorders of malabsorption. In: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 338.
Kliegman RM, Stanton BF, St. Geme JW, Schor NF. Defects in the metabolism of lipids. In: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 86.BACK TO TOP
Review Date: 8/6/2017
Reviewed By: Anna C. Edens Hurst, MD, MS, Assistant Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- 2019 A.D.A.M., a business unit of Ebix, Inc. Any duplication or distribution of the information contained herein is strictly prohibited.