Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Abetalipoproteinemia


Other Names for this Disease

  • Abetalipoproteinemia neuropathy
  • ABL
  • 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.

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]
Last updated: 3/26/2012

References

  1. Abetalipoproteinemia. Genetics Home Reference. November 2008; http://ghr.nlm.nih.gov/condition=abetalipoproteinemia. Accessed 3/26/2012.
  2. Haldeman-Englert C. Bassen-Kornzweig syndrome. MedlinePlus. June 24, 2007; http://www.nlm.nih.gov/medlineplus/ency/article/001666.htm. Accessed 3/5/2009.
  3. Singh VN, Citkowitz E. Low LDL Cholesterol (Hypobetalipoproteinemia). eMedicine. October 17, 2008; http://emedicine.medscape.com/article/121975-overview. Accessed 3/5/2009.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

2 question(s) from the public on Abetalipoproteinemia have been answered. See questions and answers. You can also submit a new question.

Basic Information

  • Genetics Home Reference (GHR) contains information on Abetalipoproteinemia. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • 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.

In Depth 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 Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • 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.
Other Names for this Disease
  • Abetalipoproteinemia neuropathy
  • ABL
  • 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.