Bassen-Kornzweig syndrome is a rare disease passed down through families in which a person is unable to fully absorb dietary fats through the intestines.
Abetalipoproteinemia; Acanthocytosis; Apolipoprotein B deficiency
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.
Loss of function of peripheral nerves, uncoordinated movement (ataxia)
When to Contact a Medical Professional
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.
Neal WA. Defects in the metabolism of lipids. In: Kliegman RM, Stanton BF, St. Geme JW III, Shor NF, Behrman RE, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, PA: Saunders Elsevier; 2011:chap 80.
Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Bethanne Black, and the A.D.A.M. Editorial team.