Concept information
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Lipid Metabolism Disorders
Lipid Metabolism, Inborn Errors
Hypolipoproteinemias
Hypobetalipoproteinemias
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Metabolism, Inborn Errors
Lipid Metabolism, Inborn Errors
Hypolipoproteinemias
Hypobetalipoproteinemias
Preferred term
Abetalipoproteinemia
Type
-
Topical Descriptor
Broader concept
Entry terms
- Acanthocytoses
- Acanthocytosis
- Bassen Kornzweig Disease
- Bassen-Kornzweig Disease
- Bassen Kornzweig Syndrome
- Bassen-Kornzweig Syndrome
- Betalipoprotein Deficiency Disease
- Betalipoprotein Deficiency Diseases
- Deficiency Disease, Betalipoprotein
- Deficiency Diseases, Betalipoprotein
- Disease, Betalipoprotein Deficiency
- Diseases, Betalipoprotein Deficiency
- Microsomal Triglyceride Transfer Protein Deficiency
- Microsomal Triglyceride Transfer Protein Deficiency Disease
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.
History note
- 1966(1964)
In other languages
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Finnish
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abetalipoproteinaemia
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Swedish
URI
http://www.yso.fi/onto/mesh/D000012
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