Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • Bassen Kornzweig syndrome
  • Microsomal triglyceride transfer protein deficiency disease
  • Microsomal-triglyceride transfer protein deficiency
  • ABL
  • Low-density beta lipoprotein deficiency
  • Abetalipoproteinemia neuropathy
  • Apolipoprotein B deficiency
  • Betalipoprotein deficiency disease
  • Congenital betalipoprotein deficiency syndrome
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Home > Genetic & Rare Diseases Information Center (GARD) > Abetalipoproteinemia



Abetalipoproteinemia
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Abetalipoproteinemia is an inherited disease in which a person is unable to fully absorb dietary fats through the intestines. It is an autosomal recessive condition caused by a defect in the microsomal triglyceride transfer protein (MTTP) gene.[1] The defect makes the body unable to create lipoproteins (molecules of fat combined with protein). Persons with this condition are unable to properly digest fat and essential vitamins, compromising normal growth, development, and maintenance of the body's cells and tissues, particularly nerve cells and tissues in the eye.[1][2] Dietary modification along with fat-soluble vitamin (vitamins A, D, E and K) and medium chain triglyceride supplements are often recommended for treatment of this conditon.[1][3]



References
  1. Haldeman-Englert C. Bassen-Kornzweig syndrome. MedlinePlus. June 24, 2007 Available at: http://www.nlm.nih.gov/medlineplus/ency/article/001666.htm. Accessed March 5, 2009.
  2. Abetalipoproteinemia. Genetics Home Reference (GHR). November 2008 Available at: http://ghr.nlm.nih.gov/condition=abetalipoproteinemia. Accessed March 5, 2009.
  3. Singh VN, Citkowitz E. Low LDL Cholesterol (Hypobetalipoproteinemia). eMedicine. October 17, 2008 Available at: http://emedicine.medscape.com/article/121975-overview. Accessed March 5, 2009.

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More Detailed Information (Found 7 resources)
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    • eMedicine provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free
    • Genetics Home Reference (GHR) contains a condition summary on Abetalipoproteinemia. Click on the link to go to GHR and review this summary.
    • MedlinePlus, a Web site designed by the National Library of Medicine Web site to help you research your health questions, provides more information about this topic. Click on the link to view this information.
    • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
    • The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Abetalipoproteinemia. Click on the link to go to OMIM and review these resources.
    • Orphanet is a database dedicated to information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
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    • We recommend that you discuss this information and your concerns with a genetics professional. The following online resources can help you find a genetics professional in your community:

       * GeneClinics - A searchable directory of US and international genetics and prenatal diagnosis clinics. To locate genetics clinics in the United States, go to the following link and click on 'Clinic Directory' to find a genetic service close to you. 

        * ResourceLink - A database of genetics counseling services, searchable by location, name, institution, type of practice, or specialty. Hosted by the National Society of Genetic Counselors.
 
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Clinical Trials & Research (Found 1 resource)
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    • ClinicalTrials.gov lists trials that are studying or have studied Abetalipoproteinemia. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

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