Abetalipoproteinemia

Introduction: 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. More detailed information about the symptoms, causes, and treatments of Abetalipoproteinemia is available below.

Symptoms of Abetalipoproteinemia

• Absence of apoprotein B-100
• Acanthocytosis
• Low/absent serum betalipoproteins
• Hypercholesterolemia
• Steatorrhea

See full list of 14 symptoms of Abetalipoproteinemia

Treatments for Abetalipoproteinemia

• Vitamin A + Vitamin E
• Vitamin E - possibly used for treatment of related Vitamin E deficiency

Read more about treatments for Abetalipoproteinemia

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Reseach about Abetalipoproteinemia

Visit our research pages for current research about Abetalipoproteinemia treatments.

Clinical Trials for Abetalipoproteinemia

The US based website ClinicalTrials.gov lists information on both federally and privately supported clinical trials using human volunteers.

Some of the clinical trials listed on ClinicalTrials.gov for Abetalipoproteinemia include:

• Vitamin Replacement in Abetalipoproteinemia - This study has been completed (Current: 23 Nov 2006)
• Lipoprotein Metabolism in Normal Volunteers and Patients With High Levels of Lipoproteins - This study is currently recruiting patients (Current: 23 Nov 2006)

Read more about Clinical Trials for Abetalipoproteinemia

Statistics for Abetalipoproteinemia

• Medical statistics for Abetalipoproteinemia
• Prevalence and incidence statistics for Abetalipoproteinemia
• Death and Mortality statistics for Abetalipoproteinemia
• Society statistics for Abetalipoproteinemia

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Definitions of 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