Abetalipoproteinemia
MESHD000012
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
- Bassen-Kornzweig Syndrome
- Bassen Kornzweig Syndrome
- Microsomal Triglyceride Transfer Protein Deficiency Disease
- Bassen-Kornzweig Disease
- Bassen Kornzweig Disease
- Microsomal Triglyceride Transfer Protein Deficiency
- Betalipoprotein Deficiency Disease
- Betalipoprotein Deficiency Diseases
- Deficiency Disease, Betalipoprotein
- Deficiency Diseases, Betalipoprotein
- Disease, Betalipoprotein Deficiency
- Diseases, Betalipoprotein Deficiency
- Acanthocytosis
- Acanthocytoses
Source last updated 2026-05-24T15:28:24.502Z