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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

Término preferido

Abetalipoproteinemia  

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Tipo

  • mesh:Descriptor

Definición

  • 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.

Concepto genérico

Conceptos relacionados

Etiquetas alternativas

  • Acanthocytosis
  • Bassen-Kornzweig Disease
  • Bassen-Kornzweig Syndrome
  • Betalipoprotein Deficiency Disease
  • Microsomal Triglyceride Transfer Protein Deficiency
  • Microsomal Triglyceride Transfer Protein Deficiency Disease

En otras lenguas

  • Abêtalipoprotéinémie

    francés

  • Acanthocytose
  • Déficit en MTP
  • Déficit en protéine microsomale de transfert des triglycérides
  • Déficit en protéine microsomique de transfert de triglycérides
  • Déficit en transporteur microsomal des triglycérides
  • Déficit en transporteur microsomique des triglycérides
  • Maladie de Bassen-Kornzweig
  • Maladie du déficit en protéine microsomale de transfert des triglycérides
  • Syndrome de Bassen-Kornzweig

URI

http://data.loterre.fr/ark:/67375/JVR-ZNLS0C8W-K

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