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.