"Abetalipoproteinemia" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
| Descriptor ID |
D000012
|
| MeSH Number(s) |
C16.320.565.398.500.440.500 C18.452.584.500.875.440.500 C18.452.648.398.500.440.500
|
| Concept/Terms |
Abetalipoproteinemia- Abetalipoproteinemia
- Bassen-Kornzweig Disease
- Bassen Kornzweig Disease
- Microsomal Triglyceride Transfer Protein Deficiency Disease
- Betalipoprotein Deficiency Disease
- Betalipoprotein Deficiency Diseases
- Deficiency Disease, Betalipoprotein
- Deficiency Diseases, Betalipoprotein
- Disease, Betalipoprotein Deficiency
- Diseases, Betalipoprotein Deficiency
- Microsomal Triglyceride Transfer Protein Deficiency
- Acanthocytosis
- Acanthocytoses
- Bassen-Kornzweig Syndrome
- Bassen Kornzweig Syndrome
|
Below are MeSH descriptors whose meaning is more general than "Abetalipoproteinemia".
Below are MeSH descriptors whose meaning is more specific than "Abetalipoproteinemia".
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Below are the most recent publications written about "Abetalipoproteinemia" by people in Profiles.