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... > Nutritional and Metabolic Diseases > Metabolic Diseases > Lipid Metabolism Disorders > Lipid Metabolism, Inborn Errors > Hypolipoproteinemias > Hypobetalipoproteinemias > Abetalipoproteinemia
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Hypolipoproteinemias > Hypobetalipoproteinemias > Abetalipoproteinemia
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Hypolipoproteinemias > Hypobetalipoproteinemias > Abetalipoproteinemia
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Lipid Metabolism Disorders > Dyslipidemias > Hypolipoproteinemias > Hypobetalipoproteinemias > Abetalipoproteinemia

Preferred term

Abetalipoproteinemia  

Type

  • Topical Descriptor

Broader concept

Related concepts

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

URI

http://www.yso.fi/onto/mesh/D000012

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