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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
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Cause

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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

References
  1. Abetalipoproteinemia. Genetics Home Reference. November 2008; http://ghr.nlm.nih.gov/condition=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.