Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000012
Abetalipoproteinemia
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.
Bassen-Kornzweig Syndrome,Microsomal Triglyceride Transfer Protein Deficiency,Acanthocytosis,Bassen-Kornzweig Disease,Betalipoprotein Deficiency Disease,Microsomal Triglyceride Transfer Protein Deficiency Disease,Acanthocytoses,Bassen Kornzweig Disease,Bassen Kornzweig Syndrome,Betalipoprotein Deficiency Diseases,Deficiency Disease, Betalipoprotein,Deficiency Diseases, Betalipoprotein,Disease, Betalipoprotein Deficiency,Diseases, Betalipoprotein Deficiency