Diseases

Abetalipoproteinemia

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.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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.

MeSH Record

Classification

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See Also

MeSH Record

Synonyms

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

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

1966(1964)

MeSH Hierarchy

Tree Numbers

  1. C16w.320w.565w.398w.500w.440w.500w
  2. C18.452w.584w.500.875w.440w.500w
  3. C18.452w.584w.563w.500w.440w.500w
  4. C18.452w.648w.398w.500w.440w.500w

AMA Style

References

  1. National Library of Medicine. Abetalipoproteinemia. Medical Subject Headings (MeSH). 2026. Unique ID D000012. http://id.nlm.nih.gov/mesh/2026/D000012
  2. Abetalipoproteinemia. In: Wikipedia. https://en.wikipedia.org/wiki/Abetalipoproteinemia
  3. Abetalipoproteinemia. In: Wikidata. https://www.wikidata.org/wiki/Q319812