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

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
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 condition characterized by the inability 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 thrive; diarrhea; acanthocytosis; and stool abnormalities. Other features develop later in childhood and often impair the function of the nervous system, potentially causing slower intellectual development; poor muscle coordination; progressive ataxia; and an eye disorder called retinitis pigmentosa.[1][2] Most of the symptoms are due to defects in the absorption and transport of vitamin E.[2] Abetalipoproteinemia is caused by mutations in the MTTP gene and is inherited in an autosomal recessive manner.[3] Early diagnosis, high-dose vitamin E therapy, and medium-chain fatty acid supplements may slow the progression of the nervous system abnormalities. Long-term outlook is reasonably good for most affected people who are diagnosed early. If left untreated, the condition can result in early death.[2]
Last updated: 3/22/2016

References

  1. Abetalipoproteinemia. Genetics Home Reference. November 2008; http://ghr.nlm.nih.gov/condition=abetalipoproteinemia.
  2. Vibhuti N Singh. Low LDL Cholesterol (Hypobetalipoproteinemia). Medscape Reference. December 16, 2014; http://emedicine.medscape.com/article/121975-overview.
  3. Haldeman-Englert C. Bassen-Kornzweig syndrome. MedlinePlus. September 8, 2013; http://www.nlm.nih.gov/medlineplus/ency/article/001666.htm.
GARD Video Tutorials
GARD Video Tutorials
Learn how to find information on treatment, research, specialists, and more.
Your Questions Answered
Your Questions Answered
View questions about this condition answered by GARD Information Specialists. 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. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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
  • 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.