Other Names for this Disease
- Abetalipoproteinemia neuropathy
- 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.
On this page
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.
Last updated: 3/26/2012
- Abetalipoproteinemia. Genetics Home Reference. November 2008; http://ghr.nlm.nih.gov/condition=abetalipoproteinemia. Accessed 3/26/2012.