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Header of Abetalipoproteinemia

Abetalipoproteinemia

Definition of the noun abetalipoproteinemia

What does abetalipoproteinemia mean as a name of something?

noun - plural: -

  1. 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

Alternative definition of the noun abetalipoproteinemia

noun

  1. A rare autosomal recessive disorder that interferes with the normal absorption of fat and fat-soluble vitamins from food.

Printed books with definitions for Abetalipoproteinemia

Click on a title to look inside that book (if available):

Google previewPrinciples of Molecular Medicine (1998)

by J. Larry Jameson

ABETALIPOPROTEINEMIA CLINICAL FEATURES Abetalipoproteinemia is a rare disorder, characterized ...

Google previewBiochemistry (2011)

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 ...

Google previewTherapeutics of Parkinson's Disease and Other Movement Disorders (2008)

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 ...

Google previewEvidence-based Management of Lipid Disorders (2010)

by Maud N Vissers,, John JP Kastelein,, Erik S Stroes,

Abetalipoproteinemia is an autosomal recessive disorder occurring in ...

Google previewHandbook 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 ...

Google previewPotter's Pathology of the Fetus and Infant (2007)

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 ...

Google previewPathology of Pediatric Gastrointestinal and Liver Disease (2014)

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 ...

Google previewA-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 ...

Google previewClinical 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 ...

Google previewMovement Disorders in Childhood (2010)

by Harvey S. Singer, Jonathan Mink, Donald L. Gilbert, Joseph Jankovic

Bassen-Kornzweig Syndrome Abetalipoproteinemia is an autosomal recessive disorder characterized by acanthocytes, ...

Google previewSleisenger and Fordtran's Gastrointestinal and Liver Disease (2010)

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 ...

Google previewNeurological 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 ...

Google previewRobbins and Cotran Review of Pathology (2014)

by Edward C. Klatt, Vinay Kumar

Abetalipoproteinemia is a rare condition from mutations in microsomal triglyceride transfer protein that impairs ...

Google previewUSMLE 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 ...

Google previewThe 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.

Google previewSocial Security Disability Medical Tests (2002)

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 ...

Google previewInherited Chorioretinal Dystrophies (2014)

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 ...

Google previewPediatric 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, ...

Google previewRobbins 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 ...

Google previewHardcore 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 ...

Google previewIntestinal 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 ...

Google previewConn'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 ...

Google previewClinical Pathology Board Review (2014)

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 ...

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Video about Abetalipoproteinemia

Abetalipoproteinemia Meaning

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.

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