Abetalipoproteinemia is a disorder that interferes with the normal absorption of fat and Abetalipoproteinemia. Synonyms, Bassen-Kornzweig syndrome. Bassen-Kornzweig disease; Homozygous familial hypobetalipoproteinemia. Prevalence: <1 / 1 ; Inheritance: Autosomal recessive; Age of onset: Infancy. BASSEN FA, KORNZWEIG AL. Malformation of the erythrocytes in a case of atypical retinitis pigmentosa. Blood. Apr;5(4)– [PubMed]; DRUEZ G .

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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 dyndrome digest fat and essential vitamins.

Orphanet: Abetalipoproteinemia

There may be damage to the retina of the eye retinitis pigmentosa. Treatment involves bassen-kotnzweig doses of vitamin supplements containing fat-soluble vitamins vitamin Avitamin Dvitamin Eand vitamin K.


People with this condition should talk to a nutritionist. Diet changes are needed to prevent stomach problems. This may bassen-kotnzweig 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.

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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. Nelson Textbook of Pediatrics.

Health Illustrated Encyclopedia – Bassen-Kornzweig syndrome

Defects in the metabolism of lipids. Review provided by VeriMed Healthcare Network.

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