Abetalipoproteinemia (also known as Bassen-Kornzweig Syndrome, Bassen Kornzweig Syndrome): 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 requir

NIH MeSH · D000012Diseases

Abetalipoproteinemia

Also known asBassen-Kornzweig Syndrome · Bassen Kornzweig Syndrome · Microsomal Triglyceride Transfer Protein Deficiency Disease · Bassen-Kornzweig Disease · Bassen Kornzweig Disease · Microsomal Triglyceride Transfer Protein Deficiency · Betalipoprotein Deficiency Disease · Betalipoprotein Deficiency Diseases · Deficiency Disease, Betalipoprotein · Deficiency Diseases, Betalipoprotein · Disease, Betalipoprotein Deficiency · Diseases, Betalipoprotein Deficiency

Definition

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 classification

  • C16.320.565.398.500.440.500
  • C18.452.584.500.875.440.500
  • C18.452.584.563.500.440.500
  • C18.452.648.398.500.440.500

Need clinical context, treatments, or patient-language explanation?

Ask GoDavaii AI about Abetalipoproteinemia

Common questions about Abetalipoproteinemia

What does Abetalipoproteinemia mean in medicine?
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. This definition is taken from the National Library of Medicine's MeSH (Medical Subject Headings) 2026 release, which is the standard vocabulary used to index PubMed and most medical literature.
Is Abetalipoproteinemia known by any other names?
Yes. Abetalipoproteinemia is also referred to as Bassen-Kornzweig Syndrome, Bassen Kornzweig Syndrome, Microsomal Triglyceride Transfer Protein Deficiency Disease, Bassen-Kornzweig Disease in different clinical, research and patient-facing contexts. The MeSH descriptor groups all of these synonyms under a single canonical concept so research and records stay consistent.
Where does Abetalipoproteinemia sit in the medical classification?
Abetalipoproteinemia falls under the broader medical category "Diseases" in the MeSH hierarchy (tree numbers: C16.320.565.398.500.440.500, C18.452.584.500.875.440.500, C18.452.584.563.500.440.500). Browsing the related concepts on this page takes you to neighbouring topics in the same branch of medicine.
Where can I get a plain-language explanation of Abetalipoproteinemia?
For a plain-language explanation of Abetalipoproteinemia - including symptoms, treatments and what it means for an Indian patient - ask GoDavaii's Health AI. It works in 22+ Indian languages, is free and needs no signup. Tap "Ask GoDavaii AI about Abetalipoproteinemia" above.

Source: NIH MeSH 2026 (D000012) — National Library of Medicine, public domain. View official MeSH record ↗