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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Abetalipoproteinemia


Other Names for this Disease

  • Abetalipoproteinemia neuropathy
  • ABL
  • Apolipoprotein B deficiency
  • Bassen Kornzweig syndrome
  • Betalipoprotein deficiency disease
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Cause

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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

References
  1. Abetalipoproteinemia. Genetics Home Reference. November 2008; http://ghr.nlm.nih.gov/condition=abetalipoproteinemia. Accessed 3/26/2012.


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