Abetalipoproteinemia

Synonyms

Acanthocytoses

Acanthocytosis

Bassen Kornzweig Disease

Bassen Kornzweig Syndrome

Bassen-Kornzweig Disease

Bassen-Kornzweig Syndrome

Betalipoprotein Deficiency Disease

Betalipoprotein Deficiency Diseases

Deficiency Disease, Betalipoprotein

Deficiency Diseases, Betalipoprotein

Disease, Betalipoprotein Deficiency

Diseases, Betalipoprotein Deficiency

Microsomal Triglyceride Transfer Protein Deficiency

Microsomal Triglyceride Transfer Protein Deficiency Disease

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.