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Abetalipoproteinemia
 

Abetalipoproteinemia is an inherited disorder that affects the absorption of dietary fats, cholesterol, and certain vitamins. People affected by this disorder are not able to make certain lipoproteins, which are molecules that consist of proteins combined with cholesterol and particular fats called triglycerides. These lipoproteins, referred to as beta-lipoproteins, include low-density lipoproteins (LDL), very-low-density lipoproteins (VLDL), and chylomicrons. A lack of beta-lipoproteins prevents absorption through the digestive tract of dietary fats and fat-soluble vitamins such as vitamins E, A, and sometimes K. Sufficient levels of fats, cholesterol, and vitamins are necessary for normal growth, development, and maintenance of the body's cells and tissues, particularly nerve cells and tissues in the eye.

Symptoms of Abetalipoproteinemia

The signs and symptoms of abetalipoproteinemia appear in the first few months of life. They can include failure to gain weight and grow at the expected rate (failure to thrive); diarrhea; abnormal star-shaped red blood cells (acanthocytosis); and fatty, foul-smelling stools (steatorrhea). Other features of this disorder may develop later in childhood and often impair the function of the nervous system. They can include poor muscle coordination, difficulty with balance and movement (ataxia), and progressive degeneration of the light-sensitive layer (retina) at the back of the eye that can progress to near-blindness. Adults in their thirties or forties may have increasing difficulty with balance and walking. Many of the signs and symptoms of abetalipoproteinemia result from a severe vitamin deficiency, especially vitamin E deficiency, which can lead to the nerve problems associated with this disorder.

How common is abetalipoproteinemia?

Abetalipoproteinemia is a rare disorder with approximately 100 cases described worldwide.

What causes abetalipoproteinemia?

Mutations in the MTTP gene cause abetalipoproteinemia.

The MTTP gene provides instructions for making a protein called microsomal triglyceride transfer protein, which is essential for creating beta-lipoproteins. These lipoproteins are necessary for the absorption of fats, cholesterol, and fat-soluble vitamins from the diet and the efficient transport of these substances in the bloodstream. Most of the mutations in this gene lead to the production of an abnormally short microsomal triglyceride transfer protein, which prevents the normal creation of beta-lipoproteins in the body.

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