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.
Other names Microsomal Triglyceride Transfer Protein Deficienc; Bassen-Kornzweig Syndrome; Bassen Kornzweig Disease; Microsomal Triglyceride Transfer Protein Deficienc; Bassen-Kornzweig Disease; Betalipoprotein Deficiency Disease; Bassen Kornzweig Syndrome
