Learn About Abetalipoproteinemia

What is the definition of Abetalipoproteinemia?

Abetalipoproteinemia is an inherited disorder that impairs the normal absorption of fats and certain vitamins from the diet. Many of the signs and symptoms of abetalipoproteinemia result from a severe shortage (deficiency) of fat-soluble vitamins (vitamins A, E, and K). The signs and symptoms of this condition primarily affect the gastrointestinal system, eyes, nervous system, and blood.

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What are the causes of Abetalipoproteinemia?

Abetalipoproteinemia is caused by mutations in the MTTP gene, which provides instructions for making a protein called microsomal triglyceride transfer protein. This protein is essential for creating molecules called beta-lipoproteins in the liver and intestine. Beta-lipoproteins transport fats, cholesterol, and fat-soluble vitamins from the intestine to the bloodstream so these nutrients can be taken up by tissues throughout the body. Sufficient levels of fats, cholesterol, and vitamins are necessary for normal growth, development, and maintenance of the body's cells and tissues.

How prevalent is Abetalipoproteinemia?

Abetalipoproteinemia is a rare disorder. More than 100 cases have been described worldwide.

Is Abetalipoproteinemia an inherited disorder?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

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What are the latest Abetalipoproteinemia Clinical Trials?
Characterization of the Density of Macular Pigment in Patients With Primary Intestinal Hypocholesterolemia and Its Relation to Their Carotenoid and Anti-oxidant Status.

Summary: Hypobetalipoproteinemias (HBL) represent a heterogeneous group of disorders characterized by reduced plasma levels of plasmatic lipids (mainly triglycerides, total cholesterol (TC), LDL-cholesterol (LDL-C), and apolipoprotein B (apoB)) below the 5th percentile of the general population adjusted for age, gender. HBL may be attributed to inherited disorders caused by mutations in several known genes...

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Foundation Fighting Blindness My Retina Tracker Registry

Summary: The My Retina Tracker® Registry is sponsored by the Foundation Fighting Blindness and is for people affected by one of the rare inherited retinal degenerative diseases studied by the Foundation. It is a patient-initiated registry accessible via a secure on-line portal at www.MyRetinaTracker.org. Affected individuals who register are guided to create a profile that captures their perspective on the...

Who are the sources who wrote this article ?

Published Date: February 01, 2018Published By: National Institutes of Health

What are the Latest Advances for Abetalipoproteinemia?
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