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Definition of the noun abetalipoproteinemia
What does abetalipoproteinemia mean as a name of something?
noun - plural: -
- a rare inherited disorder of fat metabolism; characterized by severe deficiency of beta-lipoproteins and abnormal red blood cells (acanthocytes) and abnormally low cholesterol levels
- lexical domain: States - nouns denoting stable states of affairs
- more generic terms: congenital disease / genetic abnormality / genetic defect / genetic disease / genetic disorder / hereditary condition / hereditary disease / inherited disease / inherited disorder = a disease or disorder that is inherited genetically; hypobetalipoproteinemia = a hereditary disorder characterized by low levels of beta-lipoproteins and lipids and cholesterol; lipidosis = a disorder of lipid metabolism
Alternative definition of the noun abetalipoproteinemia
- A rare autosomal recessive disorder that interferes with the normal absorption of fat and fat-soluble vitamins from food.
- synonym: Bassen-Kornzweig syndrome
Printed books with definitions for Abetalipoproteinemia
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by J. Larry Jameson
ABETALIPOPROTEINEMIA CLINICAL FEATURES Abetalipoproteinemia is a rare disorder, characterized ...
by Richard A. Harvey (Ph. D.), Richard A. Harvey, Denise R. Ferrier
[Note: Abetalipoproteinemia is a rare hypolipo- proteinemia caused by a defect in microsomal triacylglycerol transfer protein (MTP), leading to an inability to load apo B with lipid. As a consequence, no VLDL or chylomicrons are formed, and ...
by Mark Hallett, Werner Poewe
Abetalipoproteinemia is a rare autosomal recessively inherited disorder characterized by onset of diarrhea soon after birth and slow development of a neurological syndrome thereafter. The neurological syndrome ...
by Maud N Vissers,, John JP Kastelein,, Erik S Stroes,
Abetalipoproteinemia is an autosomal recessive disorder occurring in ...
Handbook of Lipidology (2016)
by Tapan Ghose
Abetalipoproteinemia is an autosomal recessive disease caused by mutations in the gene encoding for MTP. This disorder is characterized by the absence of circulating apoB-containing lipoproteins, such as chylomicrons, 158 Handbook of ...
2-Volume Set by Enid Gilbert-Barness, Raj P. Kapur, Luc Laurier Oligny, Joseph R. Siebert
Abetalipoproteinemia is a rare autosomal recessive disease with defects in lipid transport, inability to synthesize chylomicrons, and a very abnormal plasma lipid and lipoprotein profile, including absent apolipoprotein B ...
by Pierre Russo, Eduardo D. Ruchelli, David A. Piccoli
Abetalipoproteinemia is an autosomal recessive disorder characterized by the absence of apoBcontaining lipoproteins. The molecular basis for the defect is a mutation of the gene coding for microsomal ...
A-Z of Neurological Practice (2011)
A Guide to Clinical Neurology by Andrew J. Larner, Alasdair J Coles, Neil J. Scolding, Roger A Barker
Abetalipoproteinemia is a rare autosomal recessive condition characterized by the defective assembly and secretion of apolipoprotein-B-containing lipoproteins, which are required for secretion of plasma lipoproteins that contain ...
Clinical Chemistry (2015)
Fundamentals and Laboratory Techniques by Donna Larson
• Abetalipoproteinemia is a genetic disorder in which apolipoprotein B is produced, resulting in abnormal crenated red blood cells. • Nongenetic ...
by Harvey S. Singer, Jonathan Mink, Donald L. Gilbert, Joseph Jankovic
Bassen-Kornzweig Syndrome Abetalipoproteinemia is an autosomal recessive disorder characterized by acanthocytes, ...
Pathophysiology, Diagnosis, Management, Expert Consult Premium Edition - Enhanced Online Features by Mark Feldman, Lawrence S. Friedman, Lawrence J. Brandt
ABETALIPOPROTEINEMIA Abetalipoproteinemia is an autosomal recessive disorder characterized by acanthotic ...
Neurological Disorders (2003)
Course and Treatment by Thomas Brandt
Abetalipoproteinemia is an autosomal recessively inherited disorder characterized by onset of diarrhea soon after birth and slow development of a neurological syndrome thereafter. The neurological syndrome ...
by Edward C. Klatt, Vinay Kumar
Abetalipoproteinemia is a rare condition from mutations in microsomal triglyceride transfer protein that impairs ...
USMLE Step 1 Secrets (2012)
by Thomas A. Brown, Sonali J Bracken
Abetalipoproteinemia is an autosomal recessive genetic disorder characterized by the absence of apolipoprotein B, resulting in a deficiency of chylomicrons (apo B-48), VLDL (apo B-100), and LDL (apo B-100). Since chylomicrons cannot be ...
The Netter Collection of Medical Illustrations: Digestive System: Part II - Lower Digestive Tract (2016)
by James C Reynolds
ABETALIPOPROTEIN DEFICIENCY Abetalipoproteinemia is a rare, autosomal recessive disorder, caused by a mutation in the transfer protein responsible for assembly of apolipoprotein B (apoB) and lipids in the liver and intestine.
by David A. Morton, James Publishing
Abetalipoproteinemia is a rare inherited disease causing malabsorption, and usually evident in infancy. This disorder is caused by an inability to make apolipoprotein B, a substance necessary for the proper packaging and 143 Lymphoma ...
A Textbook and Atlas by Bernard Puech, Jean-Jacques De Laey, Graham E. Holder
Summary for the Clinician • Abetalipoproteinemia is a disease with an autosomal recessive inheritance characterized by malabsorption of lipids and of certain liposoluble vitamins. • The disease starts in infancy and the diagnosis can be ...
Pediatric Retina (2010)
by James D. Reynolds, Scott E. Olitsky
Abetalipoproteinemia (Bassen–Kornzweig Syndrome) Abetalipoproteinemia is an autosomal recessive disorder characterized by the absence b-lipoproteins from plasma. These b-lipoproteins, include low-density lipoproteins, ...
Robbins Basic Pathology (2012)
by Vinay Kumar, Abul K. Abbas, Jon C. Aster
Abetalipoproteinemia is an autosomal recessive disease char— acterized by an inability to secrete triglyceride-rich lipo— proteins. Although it is rare, it is included here as an example of a transepithelial transport defect ...
Hardcore Pathology (2007)
by Carter E. Wahl
Abetalipoproteinemia is an autosomal recessive defect in the ability of enterocytes to synthesize apolipoprotein B, a signaling molecule on chylomicrons, very low density lipoproteins, and low density lipoproteins. The disease presents early in ...
Intestinal Lipid Metabolism (2000)
by Charles M. Mansbach II
Abetalipoproteinemia is a rare genetic disease in which affected individuals are unable to produce apoB-containing lipoproteins (Kane and Havel, 1995). As a result of the defect, subjects have plasma cholesterol levels of around 40 mg/dl and ...
Conn's Current Therapy 2016 (2015)
by Edward T. Bope, Rick D. Kellerman
Abetalipoproteinemia is a rare condition that prevents absorption of long-chain fatty acids due to failure to form chylomicrons. Use of medium-chain triglycerides that do not require ...
by Steven L. Spitalnik, Suzanne Arinsburg, Jeffrey Jhang
n Abetalipoproteinemia is a rare genetic disorder that results in the absence of abetalipoprotein B (apo B). Without apo B, triglycerides are not able to be ...
Online dictionaries and encyclopedias with entries for Abetalipoproteinemia
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Video about Abetalipoproteinemia
Video shows what abetalipoproteinemia means. A rare autosomal recessive disorder that interferes with the normal absorption of fat and fat-soluble vitamins ...
Scrabble value of A1B3E1T1A1L1I1P3O1P3R1O1T1E1I1N1E1M3I1A1
The value of this 20-letter word is 28 points. Since it has more than 15 letters, it can be played on Super Scrabble board only.