ONKI3 | Medical Subject Headings

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Abetalipoproteinemia

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Hierarchy:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Lipid Metabolism, Inborn Errors ∟ Hypolipoproteinemias ∟ Hypobetalipoproteinemias ∟ Abetalipoproteinemia 1 coordinate concept ∟ Hypobetalipoproteinemia, Familial, Apolipoprotein B Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Lipid Metabolism Disorders ∟ Dyslipidemias ∟ Hypolipoproteinemias ∟ Hypobetalipoproteinemias ∟ Abetalipoproteinemia 1 coordinate concept ∟ Hypobetalipoproteinemia, Familial, Apolipoprotein B Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Lipid Metabolism, Inborn Errors ∟ Hypolipoproteinemias ∟ Hypobetalipoproteinemias ∟ Abetalipoproteinemia 1 coordinate concept ∟ Hypobetalipoproteinemia, Familial, Apolipoprotein B X
Broader terms:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Lipid Metabolism, Inborn Errors ∟ Hypolipoproteinemias ∟ Hypobetalipoproteinemias ∟ Abetalipoproteinemia Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Lipid Metabolism Disorders ∟ Dyslipidemias ∟ Hypolipoproteinemias ∟ Hypobetalipoproteinemias ∟ Abetalipoproteinemia Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Lipid Metabolism, Inborn Errors ∟ Hypolipoproteinemias ∟ Hypobetalipoproteinemias ∟ Abetalipoproteinemia Hypobetalipoproteinemias > Hypolipoproteinemias > Lipid Metabolism, Inborn Errors > Metabolism, Inborn Errors > Genetic Diseases, Inborn > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Hypobetalipoproteinemias > Hypolipoproteinemias > Dyslipidemias > Lipid Metabolism Disorders > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) Hypobetalipoproteinemias > Hypolipoproteinemias > Lipid Metabolism, Inborn Errors > Metabolism, Inborn Errors > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) X
historyNote*:	1966(1964) X
publicMeSHNote*:	1966 X
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. X
activeMeSHYear*:	2007X
dateCreated*:	1999-01-01X
dateEstablished*:	1966-01-01X
dateRevised*:	2006-07-05X
recordAuthorizer*:	sjnX
recordMaintainer*:	lktX
recordOriginator*:	NLMX
Type:	Concept X
Coordinate terms:	Hypobetalipoproteinemia, Familial, Apolipoprotein B X
URI:	X
Labels and equivalent concepts:	Abeetalipoproteinemia (fi) Abetalipoproteinemi (sv) Microsomal Triglyceride Transfer Protein Deficiency Disease (en, replaced) Microsomal Triglyceride Transfer Protein Deficiency (en, replaced) Bassen-Kornzweig Syndrome (en, replaced) Bassen-Kornzweig Disease (en, replaced) Abetalipoproteinaemia (la-FI, replaced) X
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