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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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Overview


Abetalipoproteinemia is a disease in which a person is unable to fully absorb dietary fats, cholesterol and fat-soluble vitamins.[1] Signs and symptoms appear in the first few months of life and can include failure to gain weight and grow at the expected rate (failure to thrive); diarrhea; acanthocytosis; and stool abnormalities. Other features of this disorder may develop later in childhood and often impair the function of the nervous system, potentially causing poor muscle coordination, ataxia, and an eye disorder called retinitis pigmentosa.[1] Abetalipoproteinemia is usually caused by mutations in the MTTP gene and is inherited in an autosomal recessive manner.[2] Treatment may include dietary modification and various dietary supplements.[2][3]


References

  1. Abetalipoproteinemia. Genetics Home Reference. http://ghr.nlm.nih.gov/condition=abetalipoproteinemia. Accessed March 26, 2012.
  2. Haldeman-Englert C. Bassen-Kornzweig syndrome. MedlinePlus. http://www.nlm.nih.gov/medlineplus/ency/article/001666.htm. Accessed March 5, 2009.
  3. Singh VN, Citkowitz E. Low LDL Cholesterol (Hypobetalipoproteinemia). eMedicine. http://emedicine.medscape.com/article/121975-overview. Accessed March 5, 2009.
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General Information

  • Genetics Home Reference (GHR) contains information on Abetalipoproteinemia. Click on the link to go to GHR and review the information.
  • MedlinePlus, a Web site designed by the National Library of Medicine to help you research your health questions, provides more information about this topic. Click on the link to view this information.
  • Medscape Reference 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.
  • 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.
  • Orphanet is a European reference portal for 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.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Abetalipoproteinemia. Click on the link to view a sample search on this topic.
  • The 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.