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Abetalipoproteinemia
(Bassen-Kornzweig Syndrome; Microsomal Triglyceride Transfer Protein Deficiency)

An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (triglycerides; cholesterol esters; phospholipids) and is required in the secretion of BETA-lipoproteins (low density lipoproteins or LDL). Features include defective intestinal lipid absorption, very low serum cholesterol level, and near absent LDL.

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Diagnosis and therapies

Symptoms:

  

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  • Reported cases - Summary of cases reported on this disease.
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Last update: April 2009
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