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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
More Names
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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 individuals with abetalipoproteinemia.[1] Infants and children may require early treatment with very high doses of vitamin E and large doses of vitamin supplements containing other fat-soluble vitamins.[1][2] Linoleic acid supplements may also recommended.[1] Restriction of intake of long-chain fatty acids is recommended to avoid complications of fat malabsorption. Since a certain amount of fat is needed for normal growth and development in all people, medium chain triglycerides (taken as a dietary supplement) are alternatively used as the major source of fat in the diet. These are absorbed from the gut differently than other fats, and thus avoid the intestinal symptoms.[1][2] Management in adults typically includes treatment of the specific complications associated with the disorder and depends on the signs and symptoms present. Affected individuals may benefit from consultations with several medical specialists including a lipidologist, gastroenterologist, hepatologist, ophthalmologist, neurologist, and nutritionist.[2]
Last updated: 3/26/2012

References
  1. Haldeman-Englert C. Bassen-Kornzweig syndrome. MedlinePlus. June 24, 2007; http://www.nlm.nih.gov/medlineplus/ency/article/001666.htm. Accessed 3/5/2009.
  2. Singh VN, Citkowitz E. Low LDL Cholesterol (Hypobetalipoproteinemia). eMedicine. October 17, 2008; http://emedicine.medscape.com/article/121975-overview. Accessed 3/5/2009.


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.