Forgot your password?
New user?
0-9 - A - B - C - D - E - F - G - H - I - J - K - L - M - N - O - P - Q - R - S - T - U - V - W - X - Y - Z
Abetalipoproteinemia
Abstract
You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering full Rare Disease reports to visitors who register on our website, for free. If you have already registered or if you are a subscriber, clicking the link to view the full report will give you an opportunity to log in. You will also be able to register or to reset your password. Registration is free and we do not share your information with anyone else, but you are limited to two full reports a day.
NORD is very grateful to M. Mahmood Hussain, MD, Professor, Department of Cell Biology and Pediatrics, SUNY Downstate Medical Center, for assistance in the preparation of this report.
Synonyms of Abetalipoproteinemia
- ABL
- Bassen-Kornzweig syndrome
- low density B-lipoprotein deficiency
- microsomal triglyceride transfer protein deficiency
- MTP deficiency
Disorder Subdivisions
- No subdivisions found.
General Discussion
Summary
Abetalipoproteinemia is a rare inherited disorder of/affecting fat metabolism. Abnormalities in fat metabolism result in malabsorption of dietary fat and various essential vitamins. Affected individuals experience progressive neurological deterioration, muscle weakness, difficulty walking, and blood abnormalities including a condition in which the red blood cells are malformed (acanthocytosis) resulting in low levels of circulating red blood cells (anemia). Affected individuals may also develop degeneration of the retina of the eyes potentially resulting in loss of vision, a condition known as retinitis pigmentosa. Abetalipoproteinemia is inherited as an autosomal recessive trait and is caused by mutations in the microsomal triglyceride transfer protein (MTTP) gene.
Introduction
Abetalipoproteinemia was first reported in the medical literature by doctors Bassen and Kornzweig in 1950 and is also known as Bassen-Kornzweig syndrome. The disorder is sometimes classified as a neuroacanthocytosis syndrome, which refers to a group of disorders characterized by acanthocytosis and neurological disorders, especially movement disorders.
Organizations related to Abetalipoproteinemia
Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder.
The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.
The National Organization for Rare Disorders (NORD) web site, its databases, and the contents thereof are copyrighted by NORD. No part of the NORD web site, databases, or the contents may be copied in any way, including but not limited to the following: electronically downloading, storing in a retrieval system, or redistributing for any commercial purposes without the express written permission of NORD. Permission is hereby granted to print one hard copy of the information on an individual disease for your personal use, provided that such content is in no way modified, and the credit for the source (NORD) and NORD’s copyright notice are included on the printed copy. Any other electronic reproduction or other printed versions is strictly prohibited.
Copyright 2005, 2012
0-9 - A - B - C - D - E - F - G - H - I - J - K - L - M - N - O - P - Q - R - S - T - U - V - W - X - Y - Z
NORD's Rare Disease Information Database is copyrighted and may not be published without the written consent of NORD.
