NLM Logo

Abetalipoproteinemia MeSH Descriptor Data 2023


MeSH Heading
Abetalipoproteinemia
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
Unique ID
D000012
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D000012
Scope Note
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.
Entry Term(s)
Acanthocytosis
Bassen-Kornzweig Disease
Bassen-Kornzweig Syndrome
Betalipoprotein Deficiency Disease
Microsomal Triglyceride Transfer Protein Deficiency
Microsomal Triglyceride Transfer Protein Deficiency Disease
Public MeSH Note
1966
History Note
1966(1964)
Date Established
1966/01/01
Date of Entry
1999/01/01
Revision Date
2021/06/30
Abetalipoproteinemia Preferred
page delivered in 0.155s