Abetalipoproteinemia

**Definition:** 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.

**Tree numbers:** - C16.320.565.398.500.440.500 - C18.452.584.500.875.440.500 - C18.452.584.563.500.440.500 - C18.452.648.398.500.440.500

**Synonyms:** - Bassen-Kornzweig Syndrome - Microsomal Triglyceride Transfer Protein Deficiency Disease - Bassen-Kornzweig Disease - Microsomal Triglyceride Transfer Protein Deficiency - Betalipoprotein Deficiency Disease - Acanthocytosis