abetalipoproteinemia

Thân thiện

A doctor explains the condition abetalipoproteinemia to a patient.

Definition

1. Noun:
   • A rare inherited disorder of fat metabolism: "Abetalipoproteinemia" is a genetic condition that disrupts the normal breakdown and use of fats in the body.
   • Characterized by specific deficiencies and abnormalities: The disorder is specifically marked by a severe lack of beta-lipoproteins, the presence of abnormally shaped red blood cells (acanthocytes), and unusually low levels of cholesterol.

Usage Examples

• Noun:
  • The diagnosis of abetalipoproteinemia was confirmed through genetic testing.
  • Patients with abetalipoproteinemia require a specialized diet low in certain fats.
  • The study focused on the neurological complications associated with abetalipoproteinemia.

Advanced Usage

• Medical context: The term is used almost exclusively in clinical, genetic, and biochemical contexts to describe this specific syndrome.
  • The research paper detailed a novel therapeutic approach for managing abetalipoproteinemia.

Variants and Related Words

• Abetalipoproteinemic (adj): Pertaining to or affected by abetalipoproteinemia.
  • The abetalipoproteinemic patient showed improvement with vitamin supplementation.

Synonyms

• Bassen-Kornzweig syndrome: An alternative name for the same disorder.
• Acanthocytosis with abetalipoproteinemia: A descriptive synonym highlighting a key feature.

Notes on Meaning

This term refers solely to a specific, monogenic medical condition. It does not have general, figurative, or colloquial meanings. Its usage is highly technical.

Học thuật

Noun

1. a rare inherited disorder of fat metabolism; characterized by severe deficiency of beta-lipoproteins and abnormal red blood cells (acanthocytes) and abnormally low cholesterol levels