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Genetic and Rare Diseases Information Center (GARD)

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Other Names for this Disease
  • Abetalipoproteinemia neuropathy
  • ABL
  • Apolipoprotein B deficiency
  • Bassen Kornzweig syndrome
  • Betalipoprotein deficiency disease
More Names
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Your Question

My daughter was diagnosed with abetalipoproteinemia last year. Can you help me to better understand this condition and how it can be managed?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is abetalipoproteinemia?

Abetalipoproteinemia is a disease in which a person is unable to fully absorb dietary fats, cholesterol and fat-soluble vitamins.[1] Signs and symptoms appear in the first few months of life and can include failure to gain weight and grow at the expected rate (failure to thrive); diarrhea; acanthocytosis; and stool abnormalities. Other features of this disorder may develop later in childhood and often impair the function of the nervous system, potentially causing poor muscle coordination, ataxia, and an eye disorder called retinitis pigmentosa.[1] Abetalipoproteinemia is usually caused by mutations in the MTTP gene and is inherited in an autosomal recessive manner.[2] Treatment may include dietary modification and various dietary supplements.[2][3]
Last updated: 3/26/2012

What causes abetalipoproteinemia?

Abetalipoproteinemia is caused by mutations in the MTTP gene. The MTTP gene provides instructions for making a protein called microsomal triglyceride transfer protein, which is needed for creating beta-lipoproteins. These lipoproteins are necessary for the absorption of fats, cholesterol, and fat-soluble vitamins (vitamins A, D, E and K) and for the transport of these substances in the bloodstream. The lack of beta-lipoproteins due to MTTP mutations causes the nutritional and neurological problems in individuals with this condition.[1]
Last updated: 3/26/2012

What are the signs and 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, abnormally foul-smelling stools (steatorrhea). Other features of this disorder may develop later in childhood and often impair the function of the nervous system, causing poor muscle coordination and difficulty with balance and movement (ataxia). Individuals may also develop an eye disorder called retinitis pigmentosa, which can cause vision loss.[1]
Last updated: 3/26/2012

How might abetalipoproteinemia be treated?

A nutritionist or other qualified medical professional should be consulted for specific dietary instruction in individuals with abetalipoproteinemia.[2] Infants and children may require early treatment with very high doses of vitamin E and large doses of vitamin supplements containing other fat-soluble vitamins.[2][3] Linoleic acid supplements may also recommended.[2] Restriction of intake of long-chain fatty acids is recommended to avoid complications of fat malabsorption. Since a certain amount of fat is needed for normal growth and development in all people, medium chain triglycerides (taken as a dietary supplement) are alternatively used as the major source of fat in the diet. These are absorbed from the gut differently than other fats, and thus avoid the intestinal symptoms.[2][3] Management in adults typically includes treatment of the specific complications associated with the disorder and depends on the signs and symptoms present. Affected individuals may benefit from consultations with several medical specialists including a lipidologist, gastroenterologist, hepatologist, ophthalmologist, neurologist, and nutritionist.[3]
Last updated: 3/26/2012

What is the prognosis for individuals affected by abetalipoproteinemia?

Prognosis is reasonably good for most patients with abetalipoproteinemia who are diagnosed early. Patients with prolonged vitamin deficiency, especially of vitamin E, may develop very limiting ataxia and gait disturbances. Some patients may develop retinal degeneration and blindness.[3] 
Last updated: 3/6/2009