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DeCS
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Descriptor English:
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Abetalipoproteinemia
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Descriptor Spanish:
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Abetalipoproteinemia
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Descriptor Portuguese:
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Abetalipoproteinemia
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Synonyms English:
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Acanthocytosis
Bassen-Kornzweig Disease
Betalipoprotein Deficiency Disease
Microsomal Triglyceride Transfer Protein Deficiency Disease
Acanthocytoses
Bassen Kornzweig Disease
Bassen Kornzweig Syndrome
Betalipoprotein Deficiency Diseases
Deficiency Disease, Betalipoprotein
Deficiency Diseases, Betalipoprotein
Disease, Betalipoprotein Deficiency
Diseases, Betalipoprotein Deficiency
Bassen-Kornzweig Syndrome
Microsomal Triglyceride Transfer Protein Deficiency
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Tree Number:
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C16.320.565.398.500.440.500
C18.452.584.500.875.440.500
C18.452.648.398.500.440.500
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Definition English:
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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 English:
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1966(1964)
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Allowable Qualifiers English:
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Record Number:
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12
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Unique Identifier:
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D000012
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Occurrence in VHL:
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Similar:
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DeCS CID-10 SciELO LILACS LIS
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