Abetalipoproteinemia

Overview

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Is a:

Disease or Syndrome

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.

Synonyms:

Bassen Kornzweig Disease
Bassen Kornzweig Syndrome
Bassen-Kornzweig Disease
Bassen-Kornzweig Syndrome
Microsomal Triglyceride Transfer Protein Deficiency
Microsomal Triglyceride Transfer Protein Deficiency Disease

Broader Topics:

Hypobetalipoproteinemias

Narrower Topics:

None

Possibly Related Topics:

List of topics based on word similarity