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Bassen-Kornzweig syndrome

Alternative names:

abetalipoproteinemia

Definition:

A rare, inherited disease characterized by fatty stools and failure to thrive in infancy.

Causes, incidence, and risk factors:


Bassen-Kornzweig syndrome is an autosomal recessive inherited disorder that affects both sexes, but predominantly males (70%). 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.


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