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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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Treatment

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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.[1][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.[1]

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

References
  1. Haldeman-Englert C. Bassen-Kornzweig syndrome. MedlinePlus. September 8, 2013; http://www.nlm.nih.gov/medlineplus/ency/article/001666.htm.
  2. Vibhuti N Singh. Low LDL Cholesterol (Hypobetalipoproteinemia). Medscape Reference. December 16, 2014; http://emedicine.medscape.com/article/121975-overview.


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Clinical Trials & Research for this Disease

  • 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.
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.