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What is Abetalipoproteinemia?

What is Abetalipoproteinemia?

  • Abetalipoproteinemia: A rare disorder involving abnormalities in fat metabolism. The resulting insufficiency of fats and vitamins affect the normal development and function of the body.
  • Abetalipoproteinemia: A disorder of lipid metabolism inherited as an autosomal recessive trait characterized by the near absence of APOLIPOPROTEINS B and apoB-containing lipoproteins in plasma. Microsomal triglyceride transfer protein is deficient or absent in enterocytes. Clinical and laboratory findings include acanthocytosis, hypocholesterolemia, peripheral neuropathy, posterior column degeneration, ataxia, and steatorrhea. Intellectual abilities may also be impaired. (Menkes, Textbook of Child Neurology, 5th ed, p118; Curr Opin Lipidol 1994 Apr;5(2):81-6)
    Source - Diseases Database

Abetalipoproteinemia is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Abetalipoproteinemia, or a subtype of Abetalipoproteinemia, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Abetalipoproteinemia as a "rare disease".
Source - Orphanet

Abetalipoproteinemia: Introduction

Types of Abetalipoproteinemia:

Broader types of Abetalipoproteinemia:

How many people get Abetalipoproteinemia?

Prevalance of Abetalipoproteinemia: only about 100 cases of abetalipoproteinemia reported worldwide, Genetics Home Reference website

How serious is Abetalipoproteinemia?

Complications of Abetalipoproteinemia: see complications of Abetalipoproteinemia

What causes Abetalipoproteinemia?

Causes of Abetalipoproteinemia: see causes of Abetalipoproteinemia

What are the symptoms of Abetalipoproteinemia?

Symptoms of Abetalipoproteinemia: see symptoms of Abetalipoproteinemia

Complications of Abetalipoproteinemia: see complications of Abetalipoproteinemia

Abetalipoproteinemia: Testing

Diagnostic testing: see tests for Abetalipoproteinemia.

Misdiagnosis: see misdiagnosis and Abetalipoproteinemia.

How is it treated?

Doctors and Medical Specialists for Abetalipoproteinemia: Medical Geneticist ; see also doctors and medical specialists for Abetalipoproteinemia.
Treatments for Abetalipoproteinemia: see treatments for Abetalipoproteinemia
Research for Abetalipoproteinemia: see research for Abetalipoproteinemia

Name and Aliases of Abetalipoproteinemia

Main name of condition: Abetalipoproteinemia

Other names or spellings for Abetalipoproteinemia:

Bassen-Kornzweig syndrome

ApoB deficiency, Bassen-Kornzweig syndrome, Betalipoprotein deficiency disease, Abetalipoproteinaemia Source - Diseases Database

ABL, Acanthocytosis, Bassen-Kornzweig syndrome, Low-density beta lipoprotein deficiency, Microsomaltriglyceride transfer protein deficiency
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Abetalipoproteinemia: Related Conditions

Research the causes of these diseases that are similar to, or related to, Abetalipoproteinemia:


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