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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 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 previewPediatric Gastrointestinal and Liver Disease (2010)

by Robert Wyllie, Jeffrey S. Hyams

45,73 Abetalipoproteinemia is a rare defect in chylomicron formation due to absent beta lipoprotein. This causes postmucosal transport of fat with accumulation ...

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 previewPotter's Pathology of the Fetus and Infant E-Book (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 previewBiochemistry (2005)

by Pamela C. Champe, Richard A. Harvey, Denise R. Ferrier

[Note: Abetalipoproteinemia is a rare hypolipoproteinemia caused by a defect in triacylglycerol transfer protein, leading to an inability to load apo B with lipid. As a consequence, no chylomicrons or VLDLs are formed, and triacylglycerols ...

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 Nutrition in Gastrointestinal Disease (2006)

by Alan Buchman

Abetalipoproteinemia is a rare genetic disorder resulting in complete failure of the liver and intestine to make triglyceride-rich lipoproteins.235 Although originally thought to be to the result of a lack of apoB synthesis, this protein is produced in ...

Google previewPeripheral Nerve Disorders (2014)

Pathology and Genetics by Jean-Michel Vallat, Joachim Weiss

Abetalipoproteinemia is a rare autosomal recessive metabolic disorder first described in 1950 by Bassen and Kornzweig [42]. It is a form of neuroacanthocytosis characterized by fat malabsorption, pigmentary degeneration, progressive ataxia, ...

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 previewRobbins and Cotran Pathologic Basis of Disease, Professional Edition E-Book (2014)

by Vinay Kumar, Abul K. Abbas, Nelson Fausto, Jon C. Aster

Abetalipoproteinemia is a rare autosomal recessive disease characterized by an inability to secrete triglyceriderich lipoproteins. It is caused by a mutation in the microsomal triglyceride transfer protein (MTP) that catalyzes transfer of lipids to ...

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 is an autosomal recessive disorder characterized by acanthotic erythrocytes, serum lipid abnormalities, ataxia, atypical retinitis pigmentosa, and steatorrhea.372 The typical laboratory ...

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 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 previewHenry's Clinical Diagnosis and Management by Laboratory Methods (2011)

by Richard A. McPherson, Matthew R. Pincus

Abetalipoproteinemia is a rare autosomal recessive disorder that is characterized by defective assembly and secretion of apolipoprotein B (apoB) and apoB- containing lipoproteins, resulting from mutations in the gene encoding the ...

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 2014 E-Book (2013)

by Edward T. Bope, Rick D. Kellerman

Abetalipoproteinemia is a rare condition that prevents absorp- tion of long-chain fatty acids due to failure to form chylomicrons. Use of medium-chain triglycerides that do not require transport in chylomicrons can bypass this defect. Pernicious ...

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 previewConn's Current Therapy 2012 (2011)

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 previewConn's Current Therapy 2017 (2016)

by Edward T. Bope, Rick D. Kellerman

Abetalipoproteinemia is a rare condition that prevents absorption ...

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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