Bassen-Kornzweig syndrome

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Bassen-Kornzweig syndrome is a rare, inherited disease characterized by the inability to fully absorb dietary fats through the gut. It results in fatty stools, diarrhea, failure to thrive in infancy, and problems with nerves.

Abetalipoproteinemia; Acanthocytosis; Apolipoprotein B deficiency

Bassen-Kornzweig syndrome is an autosomal recessive inherited disorder that affects both sexes, but predominantly males (70%). It is due to mutations in one of two genes: apolipoprotein B (APOB) or microsomal triglyceride transfer protein (MTP).

The syndrome causes the body not to make lipoproteins (molecules of fat combined with protein) including low-density lipoproteins (LDL), very-low-density lipoproteins (VLDL), and chylomicrons (small molecules of fat in the blood).

People with this disease are unable to properly digest fat, and have underdeveloped nerves (neuropathy), poor muscle coordination (ataxia), and other nerve disorders.

Review Date: 04/20/2005
Reviewed By: Neal Sondheimer, M.D., PhD., Division of Genetics and Metabolism, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network.