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.

Synonyms: Acanthocytosis, Microsomal Triglyceride Transfer Protein Deficiency, Microsomal Triglyceride Transfer Protein Deficiency Disease, Deficiency Diseases, Betalipoprotein, Abetalipoproteinemia, Bassen-Kornzweig Syndrome, Acanthocytoses, Bassen-Kornzweig Disease, Betalipoprotein Deficiency Diseases, Betalipoprotein Deficiency Disease, Bassen Kornzweig Syndrome, Disease, Betalipoprotein Deficiency, Deficiency Disease, Betalipoprotein, Diseases, Betalipoprotein Deficiency, Bassen Kornzweig Disease