Abetalipoproteinemia

Common Name(s)

Abetalipoproteinemia

Abetalipoproteinemia is a disease in which a person is unable to fully absorb dietary fats, cholesterol and fat-soluble vitamins. Signs and symptoms appear in the first few months of life and can include failure to gain weight and grow at the expected rate (failure to thrive); diarrhea; acanthocytosis; and stool abnormalities. Other features of this disorder may develop later in childhood and often impair the function of the nervous system, potentially causing poor muscle coordination, ataxia, and an eye disorder called retinitis pigmentosa. Abetalipoproteinemia is usually caused by mutations in the MTTP gene and is inherited in an autosomal recessive manner. Treatment may include dietary modification and various dietary supplements.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Abetalipoproteinemia" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Abetalipoproteinemia" returned 40 free, full-text research articles on human participants. First 3 results:

Inhibitory effects of in vivo oxidized high-density lipoproteins on platelet aggregation: evidence from patients with abetalipoproteinemia.
 

Author(s): Catherine Calzada, Evelyne Véricel, Romain Colas, Nicolas Guillot, Graziella El Khoury, Jocelyne Drai, Agnès Sassolas, Noël Peretti, Gabriel Ponsin, Michel Lagarde, Philippe Moulin

Journal: FASEB J.. 2013 Jul;27(7):2855-61.

 

There is evidence that high-density lipoproteins (HDLs) may regulate platelet function, but disparate results exist regarding the effects of oxidized HDLs on platelets. The objective of our study was to determine the role of in vivo oxidized HDLs on platelet aggregation. Platelet ...

Last Updated: 4 Jul 2013

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Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia.
 

Author(s): Irani Khatun, Meghan T Walsh, M Mahmood Hussain

Journal: J. Lipid Res.. 2013 Jun;54(6):1541-9.

 

Mutations in microsomal triglyceride transfer protein (MTP) cause abetalipoproteinemia (ABL), characterized by the absence of plasma apoB-containing lipoproteins. In this study, we characterized the effects of various MTP missense mutations found in ABL patients with respect to their ...

Last Updated: 8 May 2013

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Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia.
 

Author(s): Mathilde Di Filippo, Hervé Créhalet, Marie Elisabeth Samson-Bouma, Véronique Bonnet, Lawrence P Aggerbeck, Jean-Pierre Rabès, Frederic Gottrand, Gérald Luc, Dominique Bozon, Agnès Sassolas

Journal: J. Lipid Res.. 2012 Mar;53(3):548-55.

 

Abetalipoproteinemia (ABL) is an inherited disease characterized by the defective assembly and secretion of apolipoprotein B-containing lipoproteins caused by mutations in the microsomal triglyceride transfer protein large subunit (MTP) gene (MTTP). We report here a female patient ...

Last Updated: 29 Feb 2012

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Abetalipoproteinemia" returned 1 free, full-text review articles on human participants. First 3 results:

Abetalipoproteinemia: two case reports and literature review.
 

Author(s): Rola Zamel, Razi Khan, Rebecca L Pollex, Robert A Hegele

Journal:

 

Abetalipoproteinemia (ABL, OMIM 200100) is a rare, autosomal recessive disorder, characterized by fat malabsorption, acanthocytosis and hypocholesterolemia in infancy. Later in life, deficiency of fat-soluble vitamins is associated with development of atypical retinitis pigmentosa, ...

Last Updated: 16 Jul 2008

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Lipoprotein Metabolism in Normal Volunteers and Patients With High Levels of Lipoproteins
 

Status: Recruiting

Condition Summary: Abetalipoproteinemia; Atherosclerosis; Healthy; Inborn Errors Lipid Metabolism

 

Last Updated: 13 Nov 2014

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