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Diseases

Genetic and Rare Diseases Information Center (GARD)

Abetalipoproteinemia


Other Names for this Disease
  • Bassen Kornzweig syndrome
  • Microsomal triglyceride transfer protein deficiency disease
  • Microsomal triglyceride transfer protein deficiency
  • ABL
  • Abetalipoproteinemia neuropathy
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

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 condition characterized by the inability 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 thrive; diarrhea; acanthocytosis; and stool abnormalities. Other features develop later in childhood and often impair the function of the nervous system, potentially causing slower intellectual development; poor muscle coordination; progressive ataxia; and an eye disorder called retinitis pigmentosa.[1][2] Most of the symptoms are due to defects in the absorption and transport of vitamin E.[2] Abetalipoproteinemia is caused by mutations in the MTTP gene and is inherited in an autosomal recessive manner.[3] Early diagnosis, high-dose vitamin E therapy, and medium-chain fatty acid supplements may slow the progression of the nervous system abnormalities. Long-term outlook is reasonably good for most affected people who are diagnosed early. If left untreated, the condition can result in early death.[2]
Last updated: 3/22/2016

What causes abetalipoproteinemia?

Abetalipoproteinemia is caused by changes (mutations) in the MTTP gene. The MTTP gene gives the body instructions to make a protein needed for creating beta-lipoproteins. These lipoproteins are necessary for the body to absorb fats, cholesterol, and fat-soluble vitamins (vitamins A, D, E and K), and for transporting these substances in the blood. Mutations in the MTTP result in a lack of beta-lipoproteins, leading to an inability to absorb and transport these substances. This in turn leads to the nutritional and neurologic problems in affected people.[1]
Last updated: 3/22/2016

What are the signs and symptoms of abetalipoproteinemia?

The signs and symptoms of abetalipoproteinemia usually appear in the first few months of life. They can include:
  • failure to thrive in infancy
  • digestive symptoms such as diarrhea and steatorrhea (foul-smelling stools)
  • abnormal, star-shaped red blood cells (acanthocytosis)
  • nervous system (neurologic) symptoms beginning in childhood such as slower intellectual development; peripheral neuropathy; poor muscle coordination; ataxia; and intention tremors
  • eye (ophthalmologic) symptoms such as decreased night and color vision; retinitis pigmentosa in adolescence; and gradual deterioration of vision, often leading to blindness in the fourth decade of life[1][2]
Last updated: 3/22/2016

How might abetalipoproteinemia be treated?

A nutritionist or other qualified medical professional should be consulted for specific dietary instruction in people with abetalipoproteinemia. Treatment involves very large doses of vitamin E, as well as large doses of vitamin supplements containing other fat-soluble vitamins (vitamin A, vitamin D, and vitamin K). Linoleic acid supplements are also recommended.[3][2]

Several diet changes and/or restrictions are also needed to prevent stomach problems. A low-fat diet may help with digestive symptoms; medium chain triglycerides may be used (under supervision of a specialist) as a source of fat in the diet.[3]

Management in adults typically focuses on specific complications associated with the disorder, and depends on the signs and symptoms present. Affected people may need consultations with several other types of specialists, including a lipidologist, gastroenterologist, hepatologist, ophthalmologist, and neurologist.[2]
Last updated: 3/22/2016

What is the long-term outlook for people with abetalipoproteinemia?

The long-term outlook (prognosis) is reasonably good for most people who are diagnosed and treated early.[2] However, how well each person does depends on the amount of brain and nervous system problems.[3] Therefore, the prognosis can vary.[4] People with prolonged vitamin deficiency, especially of vitamin E, may develop very limiting ataxia and gait disturbances. Some people may develop retinal degeneration and blindness.[2]
Last updated: 3/22/2016

References
Other Names for this Disease
  • Bassen Kornzweig syndrome
  • Microsomal triglyceride transfer protein deficiency disease
  • Microsomal triglyceride transfer protein deficiency
  • ABL
  • Abetalipoproteinemia neuropathy
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.