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.
Year introduced: 1966(1964)
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Subheadings:
Tree Number(s): C16.320.565.398.500.440.500, C18.452.584.500.875.440.500, C18.452.584.563.500.440.500, C18.452.648.398.500.440.500
MeSH Unique ID: D000012
Entry Terms:
- 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