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.

Who are the top Abetalipoproteinemia Local Doctors?
Elite
Highly rated in
24
conditions

Ludwig Maximilians Universität München

Munich, BY, DE 

Adrian Danek is in Munich, Germany. Danek is rated as an Elite expert by MediFind in the treatment of Abetalipoproteinemia. He is also highly rated in 24 other conditions, according to our data. His top areas of expertise are Chorea-Acanthocytosis, Frontotemporal Dementia, Abetalipoproteinemia, and Corticobasal Degeneration.

Distinguished
Highly rated in
6
conditions

Technische Universität Dresden

Translational Neurodegeneration Section 
Rostock, MV, DE 18051

Kevin Peikert is in Rostock, Germany. Peikert is rated as a Distinguished expert by MediFind in the treatment of Abetalipoproteinemia. He is also highly rated in 6 other conditions, according to our data. His top areas of expertise are Mcleod Neuroacanthocytosis Syndrome, Chorea-Acanthocytosis, Abetalipoproteinemia, and Familial Hypobetalipoproteinemia.

 
 
 
 
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Distinguished
Highly rated in
7
conditions

Ludwig Maximilians Universität München

Munich, BY, DE 

Benedikt Bader is in Munich, Germany. Bader is rated as a Distinguished expert by MediFind in the treatment of Abetalipoproteinemia. He is also highly rated in 7 other conditions, according to our data. His top areas of expertise are Chorea-Acanthocytosis, Abetalipoproteinemia, Mcleod Neuroacanthocytosis Syndrome, and Drug Induced Dyskinesia.

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.
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Foundation Fighting Blindness My Retina Tracker Registry
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?
17β-Estradiol-Induced Conformational Changes of Human Microsomal Triglyceride Transfer Protein: A Computational Molecular Modelling Study.
Effect of cryopreservation on a rare McLeod donor red blood cell concentrate.
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Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement.