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.
Also Known As:
Bassen Kornzweig Syndrome; Acanthocytosis; Bassen-Kornzweig Disease; Betalipoprotein Deficiency Disease; Microsomal Triglyceride Transfer Protein Deficiency Disease; Acanthocytoses; Bassen Kornzweig Disease; Betalipoprotein Deficiency Diseases; Deficiency Disease, Betalipoprotein; Deficiency Diseases, Betalipoprotein; Disease, Betalipoprotein Deficiency; Diseases, Betalipoprotein Deficiency; Bassen-Kornzweig Syndrome; Microsomal Triglyceride Transfer Protein Deficiency