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.

The first signs and symptoms of abetalipoproteinemia appear in infancy. They often include failure to gain weight and grow at the expected rate (failure to thrive); diarrhea; and fatty, foul-smelling stools (steatorrhea).

As an individual with this condition ages, additional signs and symptoms include disturbances in nerve function that may lead to poor muscle coordination and difficulty with balance and movement (ataxia). They can also experience a loss of certain reflexes, impaired speech (dysarthria), tremors or other involuntary movements (motor tics), a loss of sensation in the extremities (peripheral neuropathy), or muscle weakness. The muscle problems can disrupt skeletal development, leading to an abnormally curved lower back (lordosis), a rounded upper back that also curves to the side (kyphoscoliosis), high-arched feet (pes cavus), or an inward- and upward-turning foot (clubfoot).

Individuals with this condition may also develop an eye disorder called retinitis pigmentosa, in which breakdown of the light-sensitive layer (retina) at the back of the eye can cause vision loss. In individuals with abetalipoproteinemia, the retinitis pigmentosa can result in complete vision loss. People with abetalipoproteinemia may also have other eye problems, including involuntary eye movements (nystagmus), eyes that do not look in the same direction (strabismus), and weakness of the external muscles of the eye (ophthalmoplegia).

Individuals with abetalipoproteinemia usually have a low number of red blood cells (anemia) with abnormally star-shaped red blood cells (acanthocytosis) and have difficulty forming blood clots, which can cause abnormal bleeding. In some cases, a condition called fatty liver develops, which can cause liver damage.

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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.

Most MTTP gene mutations lead to the production of microsomal triglyceride transfer protein with reduced or absent function and unable to help in the formation of beta-lipoproteins. A lack of beta-lipoproteins causes severely reduced absorption (malabsorption) of dietary fats and fat-soluble vitamins from the digestive tract into the bloodstream. These nutritional deficiencies lead to health problems in people with abetalipoproteinemia.

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?
Highly rated in

James J Peters VA Medical Center

The Bronx, NY 

Ruth Walker is a Neurologist in The Bronx, New York. Dr. Walker is rated as an Elite doctor by MediFind in the treatment of Abetalipoproteinemia. She is also highly rated in 14 other conditions, according to our data. Her top areas of expertise are Abetalipoproteinemia, Chorea-Acanthocytosis, Chorea, and Mcleod Neuroacanthocytosis Syndrome. She is licensed to treat patients in Pennsylvania.

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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, Abetalipoproteinemia, Frontotemporal Dementia, and Corticobasal Degeneration.

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Highly rated in

University Of Western Australia

Perth, WA, AU 

John Burnett is in Perth, Australia. Burnett is rated as an Elite expert by MediFind in the treatment of Abetalipoproteinemia. He is also highly rated in 14 other conditions, according to our data. His top areas of expertise are Familial Hypobetalipoproteinemia, Hypolipoproteinemia, Abetalipoproteinemia, and Xanthoma.

What are the latest Abetalipoproteinemia Clinical Trials?
Foundation Fighting Blindness My Retina Tracker Registry
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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.