"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".
This graph shows the total number of publications written about "Abetalipoproteinemia" by people in this website by year, and whether "Abetalipoproteinemia" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2010 | 1 | 0 | 1 |
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Below are the most recent publications written about "Abetalipoproteinemia" by people in Profiles.
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Zeissig S, Dougan SK, Barral DC, Junker Y, Chen Z, Kaser A, Ho M, Mandel H, McIntyre A, Kennedy SM, Painter GF, Veerapen N, Besra GS, Cerundolo V, Yue S, Beladi S, Behar SM, Chen X, Gumperz JE, Breckpot K, Raper A, Baer A, Exley MA, Hegele RA, Cuchel M, Rader DJ, Davidson NO, Blumberg RS. Primary deficiency of microsomal triglyceride transfer protein in human abetalipoproteinemia is associated with loss of CD1 function. J Clin Invest. 2010 Aug; 120(8):2889-99.